ClinVar Miner

List of variants in gene FANCL, VRK2 studied for anemia (disease)

Included ClinVar conditions (281):
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Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP
NC_000002.12:g.(?_58159755)_(58165884_?)del
NC_000002.12:g.(?_58159755)_(58241323_?)del
NC_000002.12:g.(?_58159755)_(58241323_?)dup
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.1036-6T>C rs377052216
NM_001114636.1(FANCL):c.1064_1065AG[1] (p.Ser356fs) rs750871999
NM_001114636.1(FANCL):c.1067G>A (p.Ser356Asn) rs145260146
NM_001114636.1(FANCL):c.1082T>G (p.Phe361Cys) rs773869051
NM_001114636.1(FANCL):c.1092T>C (p.Cys364=) rs11539575
NM_001114636.1(FANCL):c.1103G>A (p.Ser368Asn) rs544425912
NM_001114636.1(FANCL):c.1107+1_1107+5del rs1558727300
NM_001114636.1(FANCL):c.1111_1114dup (p.Thr372fs) rs759217526
NM_001114636.1(FANCL):c.1130G>C (p.Gly377Ala) rs149803148
NM_001114636.1(FANCL):c.707-2A>G rs1558737575
NM_001114636.1(FANCL):c.707G>A (p.Gly236Asp) rs1558737546
NM_001114636.1(FANCL):c.720C>T (p.Ser240=) rs1553435677
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.770_773TCTT[1] (p.Phe258fs) rs1553435610
NM_001114636.1(FANCL):c.791-21dup rs374236117
NM_001114636.1(FANCL):c.832T>C (p.Leu278=) rs61753272
NM_001114636.1(FANCL):c.861A>G (p.Gln287=) rs535158133
NM_001114636.1(FANCL):c.861A>T (p.Gln287His) rs535158133
NM_001114636.1(FANCL):c.878T>C (p.Leu293Ser) rs1573513610
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.933T>C (p.Asp311=) rs1060504376
NM_001114636.1(FANCL):c.947dup (p.Tyr316Ter) rs529201454
NM_001114636.1(FANCL):c.964G>A (p.Gly322Ser) rs1060501896
NM_001114636.1(FANCL):c.978T>A (p.Asp326Glu) rs140088149
NM_001114636.1(FANCL):c.982G>T (p.Val328Leu) rs763057392
NM_001114636.1(FANCL):c.984G>A (p.Val328=) rs200819615
NM_001114636.1(FANCL):c.996T>C (p.Ser332=) rs848291
NM_001130483.2(VRK2):c.41-31_41-28del rs748896681
NM_018062.3(FANCL):c.822-15_822-9delins177
NM_018062.4(FANCL):c.*128G>A
NM_018062.4(FANCL):c.*165A>C
NM_018062.4(FANCL):c.*281C>G
NM_018062.4(FANCL):c.*434A>G
NM_018062.4(FANCL):c.*515A>C
NM_018062.4(FANCL):c.*89C>T
NM_018062.4(FANCL):c.*95A>G
NM_018062.4(FANCL):c.1048_1051del (p.Gln350fs) rs1553433429
NM_018062.4(FANCL):c.1050G>T (p.Gln350His)
NM_018062.4(FANCL):c.1092G>A (p.Lys364=)
NM_018062.4(FANCL):c.739A>G (p.Met247Val) rs561027973
NM_018062.4(FANCL):c.739dup (p.Met247fs) rs1573518300
NM_018062.4(FANCL):c.767C>G (p.Ala256Gly)
NM_018062.4(FANCL):c.775+3A>G rs975755966
NM_018062.4(FANCL):c.776-8A>T rs753745302
NM_018062.4(FANCL):c.778G>C (p.Val260Leu) rs1573514956
NM_018062.4(FANCL):c.795T>C (p.Ile265=)
NM_018062.4(FANCL):c.856G>T (p.Asp286Tyr)
NM_018062.4(FANCL):c.860T>G (p.Val287Gly)
NM_018062.4(FANCL):c.913A>G (p.Met305Val)

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