ClinVar Miner

List of variants reported as uncertain significance for familial hemolytic anemia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 162
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HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064 0.00056
NM_001142864.4(PIEZO1):c.4274G>A (p.Ser1425Asn) rs772788410 0.00050
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys) rs75731670 0.00024
NM_001114134.2(EPB42):c.1487C>T (p.Thr496Met) rs199787216 0.00024
NM_006516.4(SLC2A1):c.805C>T (p.Arg269Cys) rs200247956 0.00022
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881 0.00021
NM_000342.4(SLC4A1):c.277G>T (p.Ala93Ser) rs145054469 0.00017
NM_001386140.1(MTTP):c.1301C>T (p.Thr434Ile) rs1467372840 0.00015
NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys) rs28929480 0.00013
NM_000342.4(SLC4A1):c.1759A>T (p.Met587Leu) rs201228206 0.00009
NM_000342.4(SLC4A1):c.2057C>T (p.Thr686Met) rs143131877 0.00009
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala) rs149946271 0.00007
NM_000342.4(SLC4A1):c.523C>A (p.Pro175Thr) rs201611359 0.00007
NM_000289.6(PFKM):c.857G>A (p.Arg286His) rs768496070 0.00006
NM_000342.4(SLC4A1):c.454G>A (p.Glu152Lys) rs55840505 0.00006
NM_000342.4(SLC4A1):c.985G>A (p.Glu329Lys) rs141370158 0.00006
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00006
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met) rs200828053 0.00006
NM_002049.4(GATA1):c.94G>A (p.Val32Ile) rs782698349 0.00005
NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg) rs121912749 0.00004
NM_000342.4(SLC4A1):c.*54A>G rs758901858 0.00004
NM_000342.4(SLC4A1):c.1160G>A (p.Arg387Gln) rs201280873 0.00004
NM_000342.4(SLC4A1):c.538C>T (p.Arg180Cys) rs749020872 0.00003
NM_000342.4(SLC4A1):c.877-3dup rs747181893 0.00003
NM_000188.3(HK1):c.949G>A (p.Gly317Ser) rs202028638 0.00002
NM_000342.3(SLC4A1):c.-62G>A rs387906565 0.00002
NM_000342.4(SLC4A1):c.2002G>A (p.Ala668Thr) rs368353943 0.00002
NM_000342.4(SLC4A1):c.2204C>T (p.Ala735Val) rs748087778 0.00002
NM_000342.4(SLC4A1):c.2702G>A (p.Arg901Gln) rs189300762 0.00002
NM_000342.4(SLC4A1):c.464G>A (p.Arg155Gln) rs750879183 0.00002
NM_000342.4(SLC4A1):c.697C>T (p.Arg233Cys) rs779054292 0.00002
NM_000342.4(SLC4A1):c.826A>G (p.Ile276Val) rs746406399 0.00002
NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro) rs768426818 0.00001
NM_000342.4(SLC4A1):c.1471G>A (p.Val491Met) rs757478694 0.00001
NM_000342.4(SLC4A1):c.1480G>A (p.Gly494Ser) rs751771382 0.00001
NM_000342.4(SLC4A1):c.1669G>A (p.Val557Met) rs121912743 0.00001
NM_000342.4(SLC4A1):c.2035T>C (p.Phe679Leu) rs776831481 0.00001
NM_000342.4(SLC4A1):c.2149G>A (p.Ala717Thr) rs750490778 0.00001
NM_000342.4(SLC4A1):c.2185G>A (p.Val729Met) rs775748758 0.00001
NM_000342.4(SLC4A1):c.2387G>C (p.Gly796Ala) rs766885976 0.00001
NM_000342.4(SLC4A1):c.2612G>A (p.Arg871His) rs781396793 0.00001
NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile) rs747337202 0.00001
NM_000342.4(SLC4A1):c.2656C>A (p.Leu886Met) rs150340150 0.00001
NM_000342.4(SLC4A1):c.604G>A (p.Glu202Lys) rs879205711 0.00001
NM_000342.4(SLC4A1):c.695-3C>A rs772264078 0.00001
NM_000342.4(SLC4A1):c.829G>A (p.Asp277Asn) rs138288425 0.00001
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val) rs200992175 0.00001
NM_001386140.1(MTTP):c.863C>A (p.Pro288His) rs1022457887 0.00001
NM_002049.4(GATA1):c.283G>A (p.Gly95Ser) rs782790256 0.00001
NM_003126.4(SPTA1):c.2954T>C (p.Leu985Ser) rs774722673 0.00001
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His) rs201815571 0.00001
NM_006516.4(SLC2A1):c.679+5G>A rs771386274 0.00001
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg) rs375853334 0.00001
NM_000037.4(ANK1):c.2267A>G (p.Asn756Ser)
NM_000298.6(PKLR):c.1145G>A (p.Arg382Gln)
NM_000342.4(SLC4A1):c.1040A>C (p.Tyr347Ser)
NM_000342.4(SLC4A1):c.1043A>C (p.Gln348Pro)
NM_000342.4(SLC4A1):c.107-14C>A
NM_000342.4(SLC4A1):c.1103C>T (p.Pro368Leu)
NM_000342.4(SLC4A1):c.1127G>A (p.Gly376Asp)
NM_000342.4(SLC4A1):c.112G>A (p.Asp38Asn)
NM_000342.4(SLC4A1):c.1150C>T (p.Arg384Cys)
NM_000342.4(SLC4A1):c.1172C>T (p.Pro391Leu)
NM_000342.4(SLC4A1):c.1204A>G (p.Ser402Gly)
NM_000342.4(SLC4A1):c.1273G>A (p.Gly425Ser)
NM_000342.4(SLC4A1):c.1294C>T (p.Arg432Trp)
NM_000342.4(SLC4A1):c.1318C>G (p.Leu440Val)
NM_000342.4(SLC4A1):c.1331C>G (p.Thr444Ser) rs754973425
NM_000342.4(SLC4A1):c.1337T>C (p.Val446Ala)
NM_000342.4(SLC4A1):c.1421C>G (p.Ala474Gly)
NM_000342.4(SLC4A1):c.1430C>T (p.Ser477Leu)
NM_000342.4(SLC4A1):c.143C>T (p.Thr48Ile)
NM_000342.4(SLC4A1):c.1442C>G (p.Thr481Ser)
NM_000342.4(SLC4A1):c.1492A>C (p.Ile498Leu)
NM_000342.4(SLC4A1):c.1501G>A (p.Val501Met)
NM_000342.4(SLC4A1):c.1507T>G (p.Leu503Val)
NM_000342.4(SLC4A1):c.1513G>A (p.Val505Met)
NM_000342.4(SLC4A1):c.1514T>A (p.Val505Glu)
NM_000342.4(SLC4A1):c.1515G>A (p.Val505=)
NM_000342.4(SLC4A1):c.1541G>A (p.Arg514His) rs745839527
NM_000342.4(SLC4A1):c.1553G>A (p.Arg518His)
NM_000342.4(SLC4A1):c.161C>T (p.Thr54Ile)
NM_000342.4(SLC4A1):c.1642C>A (p.Pro548Thr)
NM_000342.4(SLC4A1):c.1737C>A (p.Ala579=)
NM_000342.4(SLC4A1):c.1780A>T (p.Ser594Cys)
NM_000342.4(SLC4A1):c.1782C>G (p.Ser594Arg)
NM_000342.4(SLC4A1):c.1800+3C>G
NM_000342.4(SLC4A1):c.1807C>T (p.Arg603Trp)
NM_000342.4(SLC4A1):c.1819G>A (p.Asp607Asn) rs2144606989
NM_000342.4(SLC4A1):c.1890+7C>T
NM_000342.4(SLC4A1):c.1891-10C>T
NM_000342.4(SLC4A1):c.1940G>A (p.Gly647Asp)
NM_000342.4(SLC4A1):c.2020G>A (p.Val674Ile)
NM_000342.4(SLC4A1):c.2032A>C (p.Ile678Leu)
NM_000342.4(SLC4A1):c.2058-16C>A
NM_000342.4(SLC4A1):c.2089G>T (p.Val697Phe)
NM_000342.4(SLC4A1):c.2116C>A (p.Leu706Met)
NM_000342.4(SLC4A1):c.217C>A (p.Leu73Met)
NM_000342.4(SLC4A1):c.2194G>A (p.Val732Ile)
NM_000342.4(SLC4A1):c.2243G>A (p.Gly748Glu) rs886052996
NM_000342.4(SLC4A1):c.2252C>T (p.Ala751Val)
NM_000342.4(SLC4A1):c.2326A>G (p.Met776Val)
NM_000342.4(SLC4A1):c.2344C>T (p.Arg782Cys) rs148317876
NM_000342.4(SLC4A1):c.2345G>A (p.Arg782His)
NM_000342.4(SLC4A1):c.239G>C (p.Arg80Pro)
NM_000342.4(SLC4A1):c.2416T>C (p.Phe806Leu)
NM_000342.4(SLC4A1):c.2444C>T (p.Pro815Leu)
NM_000342.4(SLC4A1):c.2458C>T (p.Pro820Ser)
NM_000342.4(SLC4A1):c.2516T>A (p.Ile839Asn)
NM_000342.4(SLC4A1):c.253GAG[1] (p.Glu86del) rs774121522
NM_000342.4(SLC4A1):c.2578C>T (p.Pro860Ser)
NM_000342.4(SLC4A1):c.2609G>A (p.Arg870Gln)
NM_000342.4(SLC4A1):c.2624C>T (p.Pro875Leu)
NM_000342.4(SLC4A1):c.2652G>T (p.Gln884His)
NM_000342.4(SLC4A1):c.2702G>C (p.Arg901Pro) rs189300762
NM_000342.4(SLC4A1):c.2716G>A (p.Glu906Lys) rs199694087
NM_000342.4(SLC4A1):c.283G>C (p.Gly95Arg) rs1380205574
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000342.4(SLC4A1):c.290C>T (p.Pro97Leu)
NM_000342.4(SLC4A1):c.29A>T (p.Asp10Val)
NM_000342.4(SLC4A1):c.391G>C (p.Val131Leu)
NM_000342.4(SLC4A1):c.421T>C (p.Phe141Leu)
NM_000342.4(SLC4A1):c.449G>T (p.Arg150Leu)
NM_000342.4(SLC4A1):c.457C>G (p.Leu153Val)
NM_000342.4(SLC4A1):c.463C>T (p.Arg155Trp)
NM_000342.4(SLC4A1):c.486-14T>G
NM_000342.4(SLC4A1):c.573A>G (p.Gln191=)
NM_000342.4(SLC4A1):c.574C>A (p.His192Asn)
NM_000342.4(SLC4A1):c.619G>A (p.Gly207Ser)
NM_000342.4(SLC4A1):c.700G>A (p.Ala234Thr)
NM_000342.4(SLC4A1):c.703G>A (p.Asp235Asn)
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met) rs148170067
NM_000342.4(SLC4A1):c.776C>T (p.Pro259Leu)
NM_000342.4(SLC4A1):c.788G>A (p.Arg263His)
NM_000342.4(SLC4A1):c.796T>C (p.Phe266Leu)
NM_000342.4(SLC4A1):c.828C>T (p.Ile276=)
NM_000342.4(SLC4A1):c.85T>G (p.Ser29Ala)
NM_000342.4(SLC4A1):c.862C>A (p.Leu288Ile)
NM_000342.4(SLC4A1):c.866T>C (p.Met289Thr)
NM_000342.4(SLC4A1):c.93G>T (p.Met31Ile)
NM_001142864.4(PIEZO1):c.1813A>G (p.Met605Val)
NM_001142864.4(PIEZO1):c.4388AGCAGG[2] (p.1465EQ[1]) rs11281795
NM_001142864.4(PIEZO1):c.6834G>T (p.Trp2278Cys)
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup) rs755226463
NM_001243177.4(ALDOA):c.274+3G>A
NM_001355436.2(SPTB):c.4589A>G (p.His1530Arg)
NM_001355436.2(SPTB):c.6351AGA[1] (p.Glu2119del) rs750154106
NM_001367805.3(KIF23):c.1508A>G (p.Asn503Ser)
NM_001386140.1(MTTP):c.1385A>T (p.Glu462Val) rs757598679
NM_002049.4(GATA1):c.1003A>C (p.Met335Leu)
NM_002049.4(GATA1):c.340G>A (p.Glu114Lys)
NM_002049.4(GATA1):c.499G>C (p.Asp167His)
NM_002049.4(GATA1):c.550_551delinsAA (p.Ala184Asn)
NM_002049.4(GATA1):c.748G>A (p.Val250Ile)
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln) rs2147307511
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg) rs782326935
NM_003126.4(SPTA1):c.6627G>A (p.Met2209Ile)
NM_003126.4(SPTA1):c.6968T>A (p.Leu2323Gln)
NM_005689.4(ABCB6):c.1864-4A>G
NM_005689.4(ABCB6):c.2359A>G (p.Thr787Ala)
NM_006516.4(SLC2A1):c.1407G>T (p.Gln469His)

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