ClinVar Miner

List of variants in gene FANCI reported as benign by Invitae

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_001113378.2(FANCI):c.2547= (p.Lys849=) rs7183618 0.95848
NM_001113378.2(FANCI):c.1698+15C>T rs9806604 0.46880
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.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.2547A>G (p.Lys849=) rs7183618 0.04152
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.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.1326G>A (p.Glu442=) rs34405660 0.00772
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.3103C>T (p.Leu1035=) rs34462132 0.00456
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr) rs79080874 0.00400
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser) rs79685648 0.00388
NM_001113378.2(FANCI):c.2883A>G (p.Gln961=) rs11556721 0.00322
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_001113378.2(FANCI):c.3255+6dup rs878854178 0.00258
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp) rs118031800 0.00251
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
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.2447C>G (p.Ala816Gly) rs151178507 0.00188
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_001113378.2(FANCI):c.3865A>G (p.Ile1289Val) rs114549781 0.00150
NM_001113378.2(FANCI):c.2817G>T (p.Lys939Asn) rs145192583 0.00147
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=) rs116380142 0.00131
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) rs149243307 0.00063
NM_001113378.2(FANCI):c.1584-15C>G rs199531931 0.00058
NM_001113378.2(FANCI):c.1698+16G>A rs142941067 0.00057
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe) rs118138806 0.00053
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=) rs201037656 0.00024
NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=) rs768378979 0.00016
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln) rs151038616 0.00011
NM_001113378.2(FANCI):c.288+10C>T rs370505986 0.00006
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=) rs376956791 0.00005
NM_001113378.2(FANCI):c.3705C>T (p.Ala1235=) rs185771112 0.00004
NM_001113378.2(FANCI):c.1703A>G (p.His568Arg) rs555480773
NM_001113378.2(FANCI):c.1993-10del
NM_001113378.2(FANCI):c.2170-3dup
NM_001113378.2(FANCI):c.2292-12dup
NM_001113378.2(FANCI):c.2292-5dup rs1567165544
NM_001113378.2(FANCI):c.288+19del
NM_001113378.2(FANCI):c.3187-7del
NM_001113378.2(FANCI):c.3538-6del
NM_001113378.2(FANCI):c.3538-6dup
NM_001113378.2(FANCI):c.3720+14A>G rs200012909
NM_001113378.2(FANCI):c.3816+17_3816+19del rs374324314
NM_001113378.2(FANCI):c.545+16del
NM_001113378.2(FANCI):c.975+10dup rs751890595
NM_001113378.2(FANCI):c.975+23dup

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