ClinVar Miner

List of variants studied for Fanconi anemia complementation group I by KCCC/NGS Laboratory, Kuwait Cancer Control Center

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001113378.2(FANCI):c.288+37G>A rs16942918 0.47622
NM_001113378.2(FANCI):c.1698+15C>T rs9806604 0.46880
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_001113378.2(FANCI):c.3006+15A>C rs2159081 0.37877
NM_001113378.2(FANCI):c.545+19C>T rs1981623 0.37220
NM_001113378.2(FANCI):c.545+30G>A rs1981624 0.37206
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) rs17803620 0.31885
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser) rs2283432 0.29667
NM_001113378.2(FANCI):c.2367G>T (p.Ala789=) rs11857960 0.07285
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu) rs35875311 0.07245
NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu) rs62020347 0.04602
NM_001113378.2(FANCI):c.1294-8C>T rs16942931 0.03299
NM_001113378.2(FANCI):c.2028C>T (p.Ala676=) rs16942969 0.03295
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
NM_001113378.2(FANCI):c.3651+19G>A rs73472624 0.01789
NM_001113378.2(FANCI):c.1114G>A (p.Val372Ile) rs76788798 0.01679
NM_001113378.2(FANCI):c.868G>A (p.Val290Met) rs113772230 0.01634
NM_001113378.2(FANCI):c.3846C>T (p.Ser1282=) rs34557339 0.01219
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=) rs114810692 0.00625
NM_001113378.2(FANCI):c.976-13A>T rs145864790 0.00501
NM_001113378.2(FANCI):c.1699-7C>A rs28446881 0.00498
NM_001113378.2(FANCI):c.2056C>A (p.Gln686Lys) rs28378332 0.00462
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr) rs79080874 0.00400
NM_001113378.2(FANCI):c.2883A>G (p.Gln961=) rs11556721 0.00322
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=) rs3743377 0.00228
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) rs149243307 0.00063
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg) rs138026584 0.00019

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