ClinVar Miner

List of variants in gene FANCL, VRK2 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
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Total variants: 39
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HGVS dbSNP
NC_000002.11:g.(?_58386890)_(58393019_?)del
NC_000002.11:g.(?_58386890)_(58468458_?)del
NM_001114636.1(FANCL):c.791-10dupT rs374236117
NM_001130483.2(VRK2):c.41-31_41-28del rs748896681
NM_018062.3(FANCL):c.*165A>G rs866675905
NM_018062.3(FANCL):c.*296C>T rs201610023
NM_018062.3(FANCL):c.*333A>G rs147811379
NM_018062.3(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294
NM_018062.3(FANCL):c.1021-6T>C rs377052216
NM_018062.3(FANCL):c.1049_1050AG[1] (p.Ser351fs) rs750871999
NM_018062.3(FANCL):c.1052G>A (p.Ser351Asn)
NM_018062.3(FANCL):c.1067T>G (p.Phe356Cys) rs773869051
NM_018062.3(FANCL):c.1077T>C (p.Cys359=) rs11539575
NM_018062.3(FANCL):c.1088G>A (p.Ser363Asn)
NM_018062.3(FANCL):c.1092+1_1092+5delGTAAG rs1558727300
NM_018062.3(FANCL):c.1096_1099dup (p.Thr367fs) rs759217526
NM_018062.3(FANCL):c.1115G>C (p.Gly372Ala) rs149803148
NM_018062.3(FANCL):c.692-2A>G rs1558737575
NM_018062.3(FANCL):c.692G>A (p.Gly231Asp) rs1558737546
NM_018062.3(FANCL):c.693T>G (p.Gly231=) rs864622189
NM_018062.3(FANCL):c.705C>T (p.Ser235=) rs1553435677
NM_018062.3(FANCL):c.706A>G (p.Ile236Val) rs762904548
NM_018062.3(FANCL):c.755T>G (p.Phe252Cys) rs139801716
NM_018062.3(FANCL):c.755_758TCTT[1] (p.Phe253fs) rs1553435610
NM_018062.3(FANCL):c.817T>C (p.Leu273=) rs61753272
NM_018062.3(FANCL):c.822-15_822-9delins177
NM_018062.3(FANCL):c.846A>G (p.Gln282=) rs535158133
NM_018062.3(FANCL):c.846A>T (p.Gln282His) rs535158133
NM_018062.3(FANCL):c.863T>C (p.Leu288Ser)
NM_018062.3(FANCL):c.881C>T (p.Ala294Val)
NM_018062.3(FANCL):c.884G>A (p.Arg295His) rs375526911
NM_018062.3(FANCL):c.904-9_904-7delCTT rs757041554
NM_018062.3(FANCL):c.918T>C (p.Asp306=) rs1060504376
NM_018062.3(FANCL):c.932dup (p.Tyr311Ter) rs529201454
NM_018062.3(FANCL):c.949G>A (p.Gly317Ser) rs1060501896
NM_018062.3(FANCL):c.963T>A (p.Asp321Glu) rs140088149
NM_018062.3(FANCL):c.967G>T (p.Val323Leu) rs763057392
NM_018062.3(FANCL):c.969G>A (p.Val323=) rs200819615
NM_018062.3(FANCL):c.981T>C (p.Ser327=) rs848291

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