ClinVar Miner

List of variants in gene ADAM10 reported as pathogenic for reticulate acropigmentation of Kitamura

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001110.4(ADAM10):c.1264del (p.Thr422fs) rs483352915
NM_001110.4(ADAM10):c.1511G>A (p.Ser504Asn) rs483352913
NM_001110.4(ADAM10):c.1571G>A (p.Cys524Tyr) rs483352916
NM_001110.4(ADAM10):c.429T>A (p.Tyr143Ter) rs483352914
NM_001110.4(ADAM10):c.[415C>T;424_425insCAGAG]

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