List of variants in gene DKC1 reported as likely pathogenic for hereditary epidermal appendage anomaly

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001363.5(DKC1):c.1054A>G (p.Thr352Ala)	rs1114167422
NM_001363.5(DKC1):c.109_111del (p.Leu37del)	rs137854489
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)	rs1057520719
NM_001363.5(DKC1):c.114C>G (p.Ile38Met)
NM_001363.5(DKC1):c.1195G>C (p.Asp399His)	rs2071871731
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu)	rs121912289
NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn)	rs1557265435
NM_001363.5(DKC1):c.133G>A (p.Ala45Thr)	rs2071733846
NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr)	rs1569558474
NM_001363.5(DKC1):c.191T>G (p.Val64Gly)	rs2071739379
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala)	rs121912297
NM_001363.5(DKC1):c.204C>G (p.His68Gln)	rs199422245
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)	rs121912305
NM_001363.5(DKC1):c.5C>T (p.Ala2Val)	rs121912303
NM_001363.5(DKC1):c.964C>T (p.Arg322Ter)

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