ClinVar Miner

List of variants reported as likely benign for anemia (disease) by Mendelics

Included ClinVar conditions (281):
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ClinVar version:
Total variants: 63
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HGVS dbSNP
NC_000017.11:g.58692541G>A rs545213879
NM_000037.4(ANK1):c.5544+91C>T rs72638959
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3366C>T (p.His1122=) rs771815968
NM_000136.3(FANCC):c.-79+98A>G rs1408056644
NM_000136.3(FANCC):c.-87G>A rs1051113986
NM_000136.3(FANCC):c.1155-29A>G rs759352163
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 rs1289718209
NM_000136.3(FANCC):c.165+11G>C rs1588353233
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 rs372507085
NM_000136.3(FANCC):c.17T>C (p.Val6Ala) rs527289778
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 rs767811745
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000194.3(HPRT1):c.134+6_134+9del rs794727238
NM_000204.5(CFI):c.1534+5G>T rs114013791
NM_000254.2(MTR):c.155G>A (p.Arg52Gln) rs12749581
NM_000518.5(HBB):c.315+16G>C rs10768683
NM_000969.5(RPL5):c.3+3G>C rs200628272
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu) rs372534421
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=) rs376349741
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.2(FANCI):c.2636+11C>G rs1596307878
NM_001113378.2(FANCI):c.3652-70_3652-69del rs11321073
NM_001114636.1(FANCL):c.1036-6T>C rs377052216
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335
NM_005431.2(XRCC2):c.39+8C>G rs200363289
NM_005431.2(XRCC2):c.40-16T>C rs41274991
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val) rs145085742
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg) rs183784665
NM_032444.4(SLX4):c.5248G>T (p.Ala1750Ser) rs771897046
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val) rs745421287
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_058216.3(RAD51C):c.1026+43C>T rs750859385
NM_058216.3(RAD51C):c.115C>T (p.Leu39=) rs759149207
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602
NM_058216.3(RAD51C):c.145+11C>G rs1263551026
NM_058216.3(RAD51C):c.145+12T>G rs377297129
NM_058216.3(RAD51C):c.145+15T>C rs780116924
NM_058216.3(RAD51C):c.146-3C>T rs765143155
NM_058216.3(RAD51C):c.146-8A>G rs201079501
NM_058216.3(RAD51C):c.262C>T (p.Leu88=) rs786201383
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly) rs758847241
NM_058216.3(RAD51C):c.572-17G>T rs193023469
NM_184041.4(ALDOA):c.1039G>A (p.Gly347Ser) rs138824667

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