ClinVar Miner

List of variants reported as uncertain significance for XFE progeroid syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser) rs61760160 0.00056
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val) rs141591400 0.00033
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr) rs375860375 0.00012
NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp) rs370896187 0.00009
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr) rs141101671 0.00009
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser) rs765454246 0.00006
NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys) rs376688194 0.00006
NM_005236.3(ERCC4):c.2603A>C (p.His868Pro) rs368064765 0.00006
NM_005236.3(ERCC4):c.2009G>A (p.Arg670Gln) rs56129764 0.00004
NM_005236.3(ERCC4):c.1577C>T (p.Pro526Leu) rs149056863 0.00003
NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe) rs587778282 0.00003
NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala) rs200596978 0.00003
NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg) rs762147159 0.00001
NM_005236.3(ERCC4):c.473G>A (p.Arg158His) rs1012646362 0.00001
NM_005236.3(ERCC4):c.1488A>C (p.Gln496His) rs146601373
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile) rs55761944

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