ClinVar Miner

List of variants in gene FANCI reported as uncertain significance for not provided

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001113378.2(FANCI):c.3103C>T (p.Leu1035=) rs34462132 0.00456
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) rs142906652 0.00071
NM_001113378.2(FANCI):c.2326A>G (p.Met776Val) rs150544323 0.00043
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330 0.00038
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu) rs147873714 0.00020
NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile) rs199726965 0.00019
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg) rs138026584 0.00019
NM_001113378.2(FANCI):c.2041A>C (p.Thr681Pro) rs554876309 0.00019
NM_001113378.2(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734 0.00018
NM_001113378.2(FANCI):c.1810A>G (p.Met604Val) rs141879625 0.00010
NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly) rs112932178 0.00010
NM_001113378.2(FANCI):c.1412C>G (p.Pro471Arg) rs139072231 0.00007
NM_001113378.2(FANCI):c.2203A>G (p.Ile735Val) rs377308647 0.00006
NM_001113378.2(FANCI):c.2507A>G (p.Asn836Ser) rs933284199 0.00006
NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly) rs752114490 0.00004
NM_001113378.2(FANCI):c.1699-11C>T rs753750358 0.00003
NM_001113378.2(FANCI):c.1742A>G (p.Glu581Gly) rs1262508273 0.00002
NM_001113378.2(FANCI):c.209C>T (p.Thr70Ile) rs201796281 0.00002
NM_001113378.2(FANCI):c.2266T>C (p.Tyr756His) rs752028405 0.00002
NM_001113378.2(FANCI):c.2768A>G (p.Tyr923Cys) rs200907824 0.00002
NM_001113378.2(FANCI):c.1442T>G (p.Val481Gly) rs775192850 0.00001
NM_001113378.2(FANCI):c.3139C>T (p.Arg1047Cys) rs1429500240 0.00001
NM_001113378.2(FANCI):c.3721-1G>C rs1173483373 0.00001
NM_001113378.2(FANCI):c.3900G>C (p.Glu1300Asp) rs749756525 0.00001
NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val) rs775228768
NM_001113378.2(FANCI):c.1355C>T (p.Ala452Val) rs1064796848
NM_001113378.2(FANCI):c.1635G>T (p.Lys545Asn) rs2151580389
NM_001113378.2(FANCI):c.1822-8C>A rs1299091267
NM_001113378.2(FANCI):c.1950T>A (p.Cys650Ter) rs1567163989
NM_001113378.2(FANCI):c.2209A>G (p.Ile737Val)
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs) rs1567165630
NM_001113378.2(FANCI):c.2462G>A (p.Ser821Asn) rs2151754448
NM_001113378.2(FANCI):c.2669C>T (p.Thr890Ile) rs1022708692
NM_001113378.2(FANCI):c.3187-2A>T rs1472123387
NM_001113378.2(FANCI):c.328A>G (p.Asn110Asp) rs1555442689
NM_001113378.2(FANCI):c.3526C>G (p.Leu1176Val) rs2054710106
NM_001113378.2(FANCI):c.3537+3_3537+6del rs780264785
NM_001113378.2(FANCI):c.419A>G (p.Lys140Arg) rs2052718416
NM_001113378.2(FANCI):c.5A>T (p.Asp2Val) rs2151054413
NM_001113378.2(FANCI):c.727C>G (p.Gln243Glu)

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