ClinVar Miner

List of variants in gene ERCC4 reported by Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_005236.3(ERCC4):c.2724C>T (p.Val908=) rs3136225 0.00290
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005236.3(ERCC4):c.973+11A>T rs185779788 0.00013
NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe) rs147458778 0.00009
NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu) rs368830992 0.00009
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr) rs141101671 0.00009
NM_005236.3(ERCC4):c.938T>C (p.Leu313Pro) rs150244523 0.00005
NM_005236.3(ERCC4):c.2102G>A (p.Arg701His) rs762543560 0.00003
NM_005236.3(ERCC4):c.2339C>G (p.Ser780Cys) rs766596368 0.00003
NM_005236.3(ERCC4):c.256C>T (p.Arg86Cys) rs769932063 0.00002
NM_005236.3(ERCC4):c.700A>C (p.Asn234His) rs368218302 0.00002
NM_005236.3(ERCC4):c.1655C>T (p.Thr552Ile) rs549865610 0.00001
NM_005236.3(ERCC4):c.1976G>A (p.Gly659Asp) rs756811179 0.00001
NM_005236.3(ERCC4):c.2238C>G (p.Ile746Met) rs1258424638 0.00001
NM_005236.3(ERCC4):c.1009A>G (p.Ile337Val) rs1333280201
NM_005236.3(ERCC4):c.1162T>G (p.Leu388Val) rs199505105
NM_005236.3(ERCC4):c.1597G>A (p.Glu533Lys) rs2141607751
NM_005236.3(ERCC4):c.2303C>G (p.Ser768Cys) rs12928650
NM_005236.3(ERCC4):c.2726T>C (p.Val909Ala) rs2141621558

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