List of variants in gene combination ERCC4, LOC130058543 reported as uncertain significance for Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q

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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: 33

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HGVS	dbSNP	gnomAD frequency
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser)	rs61760160	0.00056
NM_005236.3(ERCC4):c.145C>T (p.Leu49Phe)	rs552142099	0.00006
NM_005236.3(ERCC4):c.37G>A (p.Ala13Thr)	rs374243778	0.00004
NM_005236.3(ERCC4):c.8C>T (p.Ser3Leu)	rs148904556	0.00004
NM_005236.3(ERCC4):c.109C>T (p.Arg37Cys)	rs144602005	0.00003
NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe)	rs587778282	0.00003
NM_005236.3(ERCC4):c.143T>A (p.Phe48Tyr)	rs779538282	0.00002
NM_005236.3(ERCC4):c.122C>G (p.Ala41Gly)	rs751095195	0.00001
NM_005236.3(ERCC4):c.124G>A (p.Asp42Asn)	rs767138486	0.00001
NM_005236.3(ERCC4):c.125A>G (p.Asp42Gly)	rs752379459	0.00001
NM_005236.3(ERCC4):c.137A>G (p.Tyr46Cys)	rs757860762	0.00001
NM_005236.3(ERCC4):c.32C>T (p.Ala11Val)	rs753596005	0.00001
NM_005236.3(ERCC4):c.41C>T (p.Pro14Leu)	rs754622238	0.00001
NM_005236.3(ERCC4):c.61C>G (p.Gln21Glu)	rs748499820	0.00001
NM_005236.3(ERCC4):c.100G>A (p.Val34Met)
NM_005236.3(ERCC4):c.106G>C (p.Ala36Pro)
NM_005236.3(ERCC4):c.130C>T (p.Leu44Phe)	rs1596616623
NM_005236.3(ERCC4):c.152T>G (p.Leu51Arg)
NM_005236.3(ERCC4):c.158G>A (p.Cys53Tyr)
NM_005236.3(ERCC4):c.167C>T (p.Ala56Val)
NM_005236.3(ERCC4):c.187A>C (p.Asn63His)	rs1203098300
NM_005236.3(ERCC4):c.190A>T (p.Thr64Ser)
NM_005236.3(ERCC4):c.19G>A (p.Ala7Thr)	rs771117594
NM_005236.3(ERCC4):c.20C>T (p.Ala7Val)
NM_005236.3(ERCC4):c.25C>G (p.Arg9Gly)
NM_005236.3(ERCC4):c.26G>C (p.Arg9Pro)	rs1214498950
NM_005236.3(ERCC4):c.2T>G (p.Met1Arg)
NM_005236.3(ERCC4):c.34A>G (p.Met12Val)
NM_005236.3(ERCC4):c.37G>T (p.Ala13Ser)	rs374243778
NM_005236.3(ERCC4):c.4G>C (p.Glu2Gln)	rs373789508
NM_005236.3(ERCC4):c.73G>C (p.Glu25Gln)
NM_005236.3(ERCC4):c.83A>G (p.Asp28Gly)
NM_005236.3(ERCC4):c.90C>G (p.Asp30Glu)

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