ClinVar Miner

List of variants in gene combination FANCL, VRK2 reported as uncertain significance for Fanconi anemia

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_001114636.1(FANCL):c.*165A>G rs866675905
NM_001114636.1(FANCL):c.*296C>T rs201610023
NM_001114636.1(FANCL):c.*333A>G rs147811379
NM_001114636.1(FANCL):c.1022_1024del (p.Ile341_Cys342delinsSer) rs747253294
NM_001114636.1(FANCL):c.1067G>A (p.Ser356Asn)
NM_001114636.1(FANCL):c.1082T>G (p.Phe361Cys) rs773869051
NM_001114636.1(FANCL):c.1103G>A (p.Ser368Asn)
NM_001114636.1(FANCL):c.1111_1114dup (p.Thr372fs) rs759217526
NM_001114636.1(FANCL):c.707G>A (p.Gly236Asp) rs1558737546
NM_001114636.1(FANCL):c.721A>G (p.Ile241Val) rs762904548
NM_001114636.1(FANCL):c.770T>G (p.Phe257Cys) rs139801716
NM_001114636.1(FANCL):c.791-21dup rs374236117
NM_001114636.1(FANCL):c.861A>T (p.Gln287His) rs535158133
NM_001114636.1(FANCL):c.878T>C (p.Leu293Ser)
NM_001114636.1(FANCL):c.896C>T (p.Ala299Val) rs756695293
NM_001114636.1(FANCL):c.899G>A (p.Arg300His) rs375526911
NM_001114636.1(FANCL):c.919-9_919-7del rs757041554
NM_001114636.1(FANCL):c.947dup (p.Tyr316Ter) rs529201454
NM_001114636.1(FANCL):c.964G>A (p.Gly322Ser) rs1060501896
NM_001114636.1(FANCL):c.982G>T (p.Val328Leu) rs763057392
NM_001114636.1(FANCL):c.984G>A (p.Val328=) rs200819615
NM_001130483.2(VRK2):c.41-31_41-28del rs748896681
NM_018062.4(FANCL):c.775+3A>G
NM_018062.4(FANCL):c.778G>C (p.Val260Leu)

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