ClinVar Miner

List of variants reported as pathogenic for atrichia with papular lesions

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005144.5(HR):c.1258del (p.Gln420fs)
NM_005144.5(HR):c.1837C>T (p.Arg613Ter) rs121434449
NM_005144.5(HR):c.2001_2004del (p.Ser667fs) rs1477806230
NM_005144.5(HR):c.2147del (p.Pro716fs) rs2131756993
NM_005144.5(HR):c.2847-2_2847-1del
NM_005144.5(HR):c.3526C>T (p.Gln1176Ter) rs121434450
NM_005144.5(HR):c.[1258del;1263_1283del]

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