ClinVar Miner

List of variants in gene HR reported as pathogenic for alopecia universalis congenita

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005144.5(HR):c.2776+1G>A rs773764015 0.00003
NM_005144.5(HR):c.3034G>A (p.Asp1012Asn) rs121434451 0.00001
NM_005144.5(HR):c.2541G>A (p.Trp847Ter) rs2131755289
NM_005144.5(HR):c.3407T>A (p.Val1136Asp) rs121434448

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