ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
4
g.148436323C>A
CA358249180
NR3C2
c.538G>T (p.Val180Phe)
n.901G>T
n.795G>T
dbSNP
4
g.148436323C>T
CA3100448
NR3C2
c.538G>A (p.Val180Ile)
n.901G>A
n.795G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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