ClinVar Miner

List of variants reported as uncertain significance for Fanconi anemia complementation group A by Mendelics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys) rs144614070 0.00038
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu) rs147492092 0.00036
NM_020937.4(FANCM):c.5440G>A (p.Glu1814Lys) rs139074680 0.00013
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) rs146609069 0.00011
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met) rs779261511 0.00010
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln) rs370346767 0.00009
NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile) rs377165815 0.00009
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg) rs546628836 0.00006
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met) rs149917017 0.00005
NM_004629.2(FANCG):c.992C>G (p.Pro331Arg) rs765722724 0.00004
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) rs374836770 0.00003
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser) rs730881724 0.00003
NM_001113525.2(ZNF276):c.*354G>A rs370357192 0.00003
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val) rs199683722 0.00003
NM_032444.4(SLX4):c.4021A>G (p.Arg1341Gly) rs747230215 0.00002
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) rs886052487 0.00001
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu) rs749230615 0.00001
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys) rs771078251 0.00001
NM_032444.4(SLX4):c.2878A>T (p.Ser960Cys) rs772190416 0.00001
NM_000135.4(FANCA):c.4167G>T (p.Gln1389His) rs1598051449
NM_000135.4(FANCA):c.542C>A (p.Ala181Glu) rs17232246
NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu) rs1588070592
NM_000136.3(FANCC):c.1495C>T (p.Pro499Ser) rs1564641164
NM_000136.3(FANCC):c.1625G>A (p.Arg542Lys) rs1588008066
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del) rs766605179
NM_004629.2(FANCG):c.770G>A (p.Arg257His) rs372234656
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_018062.4(FANCL):c.775+3A>G rs975755966
NM_018062.4(FANCL):c.778G>C (p.Val260Leu) rs1573514956
NM_020937.4(FANCM):c.3830A>G (p.Asn1277Ser) rs1594799862
NM_020937.4(FANCM):c.5353T>G (p.Leu1785Val) rs755563315
NM_032444.4(SLX4):c.1186C>G (p.Leu396Val) rs1596528058
NM_032444.4(SLX4):c.3607C>G (p.Pro1203Ala) rs745508761
NM_032444.4(SLX4):c.3830G>A (p.Ser1277Asn) rs1596520868
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282

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