ClinVar Miner

List of variants in gene WASHC4 reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg) rs201428088 0.00029
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg) rs748436953 0.00003
NM_015275.3(WASHC4):c.1324C>T (p.Gln442Ter) rs2135773055
NM_015275.3(WASHC4):c.3041A>G (p.Tyr1014Cys) rs768574664
NM_015275.3(WASHC4):c.3056C>G (p.Pro1019Arg) rs587777411
NM_015275.3(WASHC4):c.3143A>G (p.Asp1048Gly) rs1212552985

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