ClinVar Miner

List of variants reported as likely benign for Fanconi anemia, complementation group A by Mendelics

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Total variants: 36
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HGVS dbSNP
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3366C>T (p.His1122=)
NM_000136.3(FANCC):c.-79+98A>G
NM_000136.3(FANCC):c.-87G>A
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.1275C>G (p.Leu425=) rs767126985
NM_000136.3(FANCC):c.1329+10A>G rs977427150
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368
NM_000136.3(FANCC):c.1534-18C>T
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.17T>C (p.Val6Ala)
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.844-10_844-8del rs758617953
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.2(FANCI):c.2636+11C>G
NM_001113378.2(FANCI):c.3652-70_3652-69del
NM_001114636.1(FANCL):c.1036-6T>C rs377052216
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg)
NM_032444.4(SLX4):c.5248G>T (p.Ala1750Ser)
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val)
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_033084.6(FANCD2):c.1118C>T (p.Ser373Leu)
NM_033084.6(FANCD2):c.1143C>T (p.Asp381=)

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