ClinVar Miner

List of variants studied for Fanconi anemia, complementation group A by Mendelics

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Total variants: 106
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HGVS dbSNP
NM_000135.4(FANCA):c.*1C>T
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.4(FANCA):c.236_239del (p.Asp79fs)
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter)
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3366C>T (p.His1122=)
NM_000135.4(FANCA):c.4167G>T (p.Gln1389His)
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro)
NM_000135.4(FANCA):c.542C>A (p.Ala181Glu)
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) rs886052487
NM_000136.3(FANCC):c.-79+98A>G
NM_000136.3(FANCC):c.-87G>A
NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu)
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu) rs759900071
NM_000136.3(FANCC):c.1155-29A>G
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.1161C>T (p.Cys387=) rs548998258
NM_000136.3(FANCC):c.1257del (p.Thr420fs)
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met) rs779261511
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) rs374836770
NM_000136.3(FANCC):c.1329+10A>G rs977427150
NM_000136.3(FANCC):c.1329+306C>T
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser) rs730881724
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met) rs149917017
NM_000136.3(FANCC):c.1495C>T (p.Pro499Ser) rs1564641164
NM_000136.3(FANCC):c.1534-18C>T
NM_000136.3(FANCC):c.1625G>A (p.Arg542Lys)
NM_000136.3(FANCC):c.165+11G>C
NM_000136.3(FANCC):c.166-5C>T rs753820400
NM_000136.3(FANCC):c.166-7T>C rs369052148
NM_000136.3(FANCC):c.166-9C>G
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.3(FANCC):c.17T>C (p.Val6Ala)
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.3(FANCC):c.519del (p.Arg173fs) rs1564719070
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln) rs370346767
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.687-5G>T
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu) rs749230615
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.1(FANCI):c.3706G>A (p.Val1236Ile) rs377165815
NM_001113378.2(FANCI):c.2636+11C>G
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs)
NM_001113378.2(FANCI):c.3652-70_3652-69del
NM_001114636.1(FANCL):c.1036-6T>C rs377052216
NM_001114636.1(FANCL):c.1111_1114dup (p.Thr372fs) rs759217526
NM_004629.2(FANCG):c.770G>A (p.Arg257His)
NM_004629.2(FANCG):c.992C>G (p.Pro331Arg)
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)
NM_018062.4(FANCL):c.775+3A>G
NM_018062.4(FANCL):c.778G>C (p.Val260Leu)
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267
NM_020937.4(FANCM):c.3830A>G (p.Asn1277Ser)
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr)
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg)
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911
NM_020937.4(FANCM):c.5353T>G (p.Leu1785Val)
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) rs146609069
NM_020937.4(FANCM):c.5440G>A (p.Glu1814Lys)
NM_032444.4(SLX4):c.1186C>G (p.Leu396Val)
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val) rs199683722
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu) rs147492092
NM_032444.4(SLX4):c.2878A>T (p.Ser960Cys)
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg) rs546628836
NM_032444.4(SLX4):c.3607C>G (p.Pro1203Ala)
NM_032444.4(SLX4):c.3830G>A (p.Ser1277Asn)
NM_032444.4(SLX4):c.4021A>G (p.Arg1341Gly)
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter)
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.4391_4403del (p.Ser1464fs)
NM_032444.4(SLX4):c.4405del (p.Ser1469fs)
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys) rs144614070
NM_032444.4(SLX4):c.4881del (p.Thr1628fs)
NM_032444.4(SLX4):c.5248G>T (p.Ala1750Ser)
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val)
NM_033084.5(FANCD2):c.1122A>G (p.Val374=) rs34046352
NM_033084.5(FANCD2):c.1137G>T (p.Val379=) rs72492997
NM_033084.5(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_033084.5(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204
NM_033084.5(FANCD2):c.182C>T (p.Thr61Met) rs35110529
NM_033084.5(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315
NM_033084.5(FANCD2):c.2022-5C>T rs4019784
NM_033084.5(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017
NM_033084.6(FANCD2):c.1118C>T (p.Ser373Leu)
NM_033084.6(FANCD2):c.1135-25G>A
NM_033084.6(FANCD2):c.1143C>T (p.Asp381=)
NM_033084.6(FANCD2):c.2494+95C>A
NM_033084.6(FANCD2):c.2494+97T>A
NM_033084.6(FANCD2):c.2494+98C>A
NM_033084.6(FANCD2):c.3706C>T (p.Arg1236Cys)
NM_033084.6(FANCD2):c.3777+83_3777+86del
NM_173472.2(FANCD2OS):c.43+5429_43+5434del rs766605179

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