List of variants reported as likely pathogenic for familial hemolytic anemia by Fulgent Genetics, Fulgent Genetics

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

Total variants: 103

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HGVS	dbSNP	gnomAD frequency
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	rs76723693	0.00154
NM_000178.4(GSS):c.373C>T (p.Arg125Cys)	rs28936396	0.00029
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys)	rs201270568	0.00005
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)	rs374547385	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_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)	rs372321643	0.00004
NM_006363.6(SEC23B):c.53G>A (p.Arg18His)	rs905074313	0.00004
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)	rs121918225	0.00004
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)	rs137852342	0.00003
NM_001386140.1(MTTP):c.1067+1G>C	rs752343394	0.00002
NM_000178.4(GSS):c.656A>G (p.Asp219Gly)	rs28938472	0.00001
NM_000178.4(GSS):c.706C>T (p.Arg236Ter)	rs765110067	0.00001
NM_000178.4(GSS):c.799C>T (p.Arg267Trp)	rs121909308	0.00001
NM_000289.6(PFKM):c.1191+1G>A	rs746348793	0.00001
NM_000289.6(PFKM):c.1413-2A>G	rs1430517061	0.00001
NM_000298.6(PKLR):c.1269G>A (p.Ala423=)	rs774652817	0.00001
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)	rs28931584	0.00001
NM_001386140.1(MTTP):c.1392del (p.Glu465fs)	rs1725827570	0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)	rs780978419	0.00001
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter)	rs1568617456	0.00001
NM_006363.6(SEC23B):c.2150del (p.Ala717fs)	rs1334741748	0.00001
NM_138477.4(CDAN1):c.1796A>G (p.Asn599Ser)	rs120074166	0.00001
NM_000178.4(GSS):c.110_119del (p.Gln37fs)
NM_000178.4(GSS):c.1139_1144del (p.Val380_Gln381del)	rs770455024
NM_000178.4(GSS):c.1142del (p.Gln381fs)
NM_000178.4(GSS):c.1227C>A (p.Cys409Ter)	rs2081381650
NM_000178.4(GSS):c.1252C>T (p.Arg418Ter)	rs1486049191
NM_000178.4(GSS):c.127G>T (p.Glu43Ter)
NM_000178.4(GSS):c.1416C>A (p.Tyr472Ter)
NM_000178.4(GSS):c.275+2T>G
NM_000178.4(GSS):c.421A>T (p.Lys141Ter)
NM_000178.4(GSS):c.490C>T (p.Arg164Ter)
NM_000178.4(GSS):c.574del (p.Ile192fs)
NM_000178.4(GSS):c.768-2A>C
NM_000178.4(GSS):c.820C>T (p.Gln274Ter)
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)	rs1057517928
NM_000289.6(PFKM):c.1062+1G>A
NM_000289.6(PFKM):c.1191+1del
NM_000289.6(PFKM):c.1412+1G>T
NM_000289.6(PFKM):c.1458dup (p.Lys487Ter)
NM_000289.6(PFKM):c.1501-2del	rs1410122696
NM_000289.6(PFKM):c.1509_1510del (p.Gly505fs)
NM_000289.6(PFKM):c.159+1G>T	rs1305706304
NM_000289.6(PFKM):c.160-1G>C
NM_000289.6(PFKM):c.1607C>G (p.Ser536Ter)
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
NM_000289.6(PFKM):c.1876_1880+2del
NM_000289.6(PFKM):c.1905dup (p.Thr636fs)
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)	rs121918195
NM_000289.6(PFKM):c.353del (p.Gly118fs)
NM_000289.6(PFKM):c.594-2_594del
NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs)
NM_000289.6(PFKM):c.936+2T>G
NM_000298.6(PKLR):c.391_393del (p.Ile131del)	rs886045351
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln)	rs121912755
NM_000342.4(SLC4A1):c.1242del (p.Phe414fs)
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg)	rs878853002
NM_000342.4(SLC4A1):c.2260C>T (p.Gln754Ter)	rs2144601189
NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter)	rs199694087
NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr)	rs2047328405
NM_000342.4(SLC4A1):c.349+1G>C
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)	rs137852317
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)	rs78478128
NM_000611.6(CD59):c.143_144del (p.Asp47_Phe48insTer)
NM_000611.6(CD59):c.190del (p.Cys64fs)
NM_000611.6(CD59):c.2T>C (p.Met1Thr)
NM_000611.6(CD59):c.301del (p.Glu101fs)
NM_001114134.2(EPB42):c.108dup (p.Gln37fs)
NM_001114134.2(EPB42):c.775C>T (p.Arg259Ter)
NM_001166686.2(PFKM):c.62_65del (p.Val21fs)
NM_001355436.2(SPTB):c.3088G>T (p.Glu1030Ter)
NM_001355436.2(SPTB):c.3262del (p.Asp1088fs)
NM_001360016.2(G6PD):c.1028_1029del (p.Tyr343fs)
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met)
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)	rs78365220
NM_001360016.2(G6PD):c.679C>G (p.Arg227Gly)
NM_001386140.1(MTTP):c.141del (p.Gly49fs)	rs1228389182
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs)	rs2110230146
NM_001386140.1(MTTP):c.2036del (p.Pro679fs)
NM_001386140.1(MTTP):c.502-1G>C	rs1449774712
NM_001386140.1(MTTP):c.52del (p.Ser18fs)
NM_001386140.1(MTTP):c.62-2A>G
NM_001386140.1(MTTP):c.672del (p.Asp224fs)
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)	rs2062673416
NM_003126.4(SPTA1):c.1833+1G>A	rs1035389616
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp)	rs764893806
NM_006363.6(SEC23B):c.1511+2_1511+5del
NM_006363.6(SEC23B):c.1616_1617del (p.Glu539fs)
NM_006363.6(SEC23B):c.2074_2077dup (p.Asp693delinsGlyTer)
NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)
NM_006363.6(SEC23B):c.454C>T (p.Gln152Ter)
NM_006363.6(SEC23B):c.664C>T (p.Gln222Ter)
NM_006363.6(SEC23B):c.762G>A (p.Trp254Ter)
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)	rs13306758
NM_138477.4(CDAN1):c.148_151dup (p.Pro51fs)
NM_138477.4(CDAN1):c.152C>T (p.Pro51Leu)
NM_138477.4(CDAN1):c.175G>T (p.Glu59Ter)
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
NM_138477.4(CDAN1):c.2632_2633del (p.Val878fs)
NM_138477.4(CDAN1):c.2783_2789delinsTGGGGCGG (p.Gln928fs)
NM_138477.4(CDAN1):c.3204+1G>A
NM_138477.4(CDAN1):c.774-1G>T

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