ClinVar Miner

List of variants reported as likely benign for Acrodysostosis 1 with or without hormone resistance by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His) rs200069356 0.00036
NM_002734.5(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504 0.00009
NM_002734.5(PRKAR1A):c.762T>C (p.Ser254=) rs753621663 0.00003
NM_002734.5(PRKAR1A):c.-6-7C>T rs373646911 0.00002
NM_002734.5(PRKAR1A):c.*812A>C rs116996069

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