ClinVar Miner

List of variants in gene ADCY6 reported as pathogenic for congenital limb malformation

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015270.5(ADCY6):c.3007G>A (p.Glu1003Lys) rs1941551290 0.00001
NM_015270.5(ADCY6):c.1535+1G>A rs1941705738
NM_015270.5(ADCY6):c.2975A>G (p.Tyr992Cys) rs879253864

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