List of variants reported as pathogenic for anemia by Mendelics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 75

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HGVS	dbSNP	gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_000518.5(HBB):c.20A>T (p.Glu7Val)	rs334	0.01298
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	rs33930165	0.00414
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	rs76723693	0.00154
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NC_000011.10:g.5227100T>C	rs34598529	0.00091
NM_000402.4(G6PD):c.934G>C (p.Asp312His)	rs137852318	0.00072
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)	rs5030872	0.00048
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)	rs72554665	0.00046
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_000136.3(FANCC):c.456+4A>T	rs104886456	0.00021
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)	rs398123546	0.00014
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)	rs72554664	0.00012
NM_000402.4(G6PD):c.961G>A (p.Val321Met)	rs137852327	0.00010
NM_000402.4(G6PD):c.185A>G (p.His62Arg)	rs137852340	0.00008
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln)	rs137852328	0.00008
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	rs104886457	0.00007
NM_000518.5(HBB):c.92+6T>C	rs35724775	0.00007
NM_002454.3(MTRR):c.903+469T>C	rs893229476	0.00007
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)	rs779544327	0.00007
NM_000398.7(CYB5R3):c.464-2A>C	rs794728013	0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)	rs137852331	0.00004
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	rs5030869	0.00003
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)	rs137852330	0.00003
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter)	rs775380378	0.00003
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)	rs979416826	0.00002
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe)	rs782757170	0.00002
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)	rs76645461	0.00001
NM_001018115.3(FANCD2):c.3777+1G>T	rs1434069831	0.00001
NM_001360016.2(G6PD):c.242G>A (p.Arg81His)	rs782308266	0.00001
NM_001360016.2(G6PD):c.323T>A (p.Val108Glu)	rs1557230626	0.00001
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)	rs78365220	0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)	rs137853062	0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)	rs754990692	0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)	rs770637624	0.00001
NM_000096.4(CP):c.2756T>C (p.Leu919Pro)	rs1135401784
NM_000135.4(FANCA):c.236_239del (p.Asp79fs)	rs1336033143
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter)	rs1183559927
NM_000136.3(FANCC):c.1257del (p.Thr420fs)	rs765551897
NM_000136.3(FANCC):c.1257dup (p.Thr420fs)	rs765551897
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)	rs1035139114
NM_000136.3(FANCC):c.1653dup (p.Lys552Ter)	rs2134382250
NM_000136.3(FANCC):c.259C>T (p.Gln87Ter)	rs2136049646
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter)	rs1064793405
NM_000136.3(FANCC):c.519del (p.Arg173fs)	rs1564719070
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)	rs1064794848
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs)	rs1664521219
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp)	rs373916826
NM_000355.4(TCN2):c.249_255dup (p.Gly86fs)	rs1602043738
NM_000398.7(CYB5R3):c.226+2T>C	rs1601938489
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)	rs78478128
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)	rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	rs137852314
NM_000402.4(G6PD):c.683G>A (p.Arg228His)	rs137852332
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	rs33946267
NM_000518.5(HBB):c.190C>T (p.His64Tyr)	rs33922873
NM_000518.5(HBB):c.93-2A>G	rs63750513
NM_000969.5(RPL5):c.169_172del (p.Asn57fs)	rs1558284033
NM_001018115.3(FANCD2):c.1279-1G>A	rs1294791314
NM_001358263.1(HK1):c.-270G>C	rs397514654
NM_001360016.2(G6PD):c.1143C>G (p.Phe381Leu)	rs2148328905
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys)	rs137852325
NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter)	rs1603411214
NM_002641.4(PIGA):c.145G>A (p.Val49Met)	rs1569180100
NM_002641.4(PIGA):c.350T>C (p.Phe117Ser)	rs2147723760
NM_003126.4(SPTA1):c.4339-99C>T	rs200830867
NM_005373.3(MPL):c.1653+1del	rs755257605
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	rs200895671
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)	rs771028677
NM_032444.4(SLX4):c.4391_4403del (p.Ser1464fs)	rs1596519879
NM_032444.4(SLX4):c.4405del (p.Ser1469fs)	rs1596519854
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs)	rs1555602141
NM_206965.2(FTCD):c.990dup (p.Pro331fs)	rs398124234

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