List of variants in gene HR reported as pathogenic for Atrichia with papular lesions

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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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