ClinVar Miner

List of variants studied for familial hemolytic anemia by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His) rs201822255 0.00018
NM_003126.4(SPTA1):c.3841C>T (p.Arg1281Cys) rs199685020 0.00016
NM_001355436.2(SPTB):c.947C>T (p.Thr316Ile) rs146651264 0.00015
NM_000298.6(PKLR):c.1436G>A (p.Arg479His) rs118204085 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_001355436.2(SPTB):c.4837C>T (p.Pro1613Ser) rs375478086 0.00004
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val) rs571740084 0.00003
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_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter) rs757836263 0.00002
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met) rs752664090 0.00002
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr) rs1238884216 0.00001
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser) rs776594413 0.00001
NM_001355436.2(SPTB):c.220C>T (p.Arg74Cys) rs575005279 0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys) rs780978419 0.00001
NM_000037.4(ANK1):c.1319C>T (p.Pro440Leu)
NM_000037.4(ANK1):c.1405-9G>A
NM_000037.4(ANK1):c.1487_1488dup (p.Asn497fs)
NM_000037.4(ANK1):c.1729G>A (p.Val577Ile)
NM_000037.4(ANK1):c.2004del (p.Leu669fs) rs2150616506
NM_000037.4(ANK1):c.2029C>T (p.Gln677Ter) rs1563502820
NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs) rs2150605978
NM_000037.4(ANK1):c.2447T>A (p.Val816Asp)
NM_000037.4(ANK1):c.2855G>A (p.Arg952His)
NM_000037.4(ANK1):c.3068G>A (p.Arg1023His)
NM_000037.4(ANK1):c.3112G>T (p.Glu1038Ter)
NM_000037.4(ANK1):c.3151del (p.Val1051fs)
NM_000037.4(ANK1):c.3280A>G (p.Thr1094Ala)
NM_000037.4(ANK1):c.3974_3981dup (p.Lys1328delinsCysLeuTer)
NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter) rs1172677213
NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter) rs1586072383
NM_000037.4(ANK1):c.4444A>G (p.Met1482Val) rs2150578454
NM_000037.4(ANK1):c.4538G>A (p.Gly1513Asp)
NM_000037.4(ANK1):c.5207G>T (p.Ser1736Ile)
NM_000037.4(ANK1):c.5282C>T (p.Thr1761Met)
NM_000037.4(ANK1):c.970del (p.Leu324fs)
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.1094C>T (p.Thr365Ile)
NM_000175.5(GPI):c.1414C>T (p.Arg472Cys) rs1364382189
NM_000175.5(GPI):c.557A>G (p.Asn186Ser)
NM_000175.5(GPI):c.804+1_804+2del
NM_000298.6(PKLR):c.1492C>A (p.Arg498Ser)
NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)
NM_000298.6(PKLR):c.603G>A (p.Trp201Ter)
NM_000298.6(PKLR):c.692T>C (p.Ile231Thr)
NM_000298.6(PKLR):c.958G>A (p.Val320Met)
NM_000342.4(SLC4A1):c.1331C>A (p.Thr444Asn) rs754973425
NM_000342.4(SLC4A1):c.2131G>A (p.Gly711Ser)
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000365.6(TPI1):c.466_468del (p.Lys156del)
NM_000375.3(UROS):c.660+4del
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys) rs137852334
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000611.6(CD59):c.286_295del (p.Phe96fs)
NM_000637.5(GSR):c.94G>T (p.Glu32Ter)
NM_001142864.4(PIEZO1):c.1333G>A (p.Val445Ile) rs902069811
NM_001142864.4(PIEZO1):c.3026A>T (p.Gln1009Leu)
NM_001142864.4(PIEZO1):c.4241A>G (p.His1414Arg)
NM_001142864.4(PIEZO1):c.6412T>G (p.Cys2138Gly)
NM_001142864.4(PIEZO1):c.6439_6441del (p.Phe2147del)
NM_001142864.4(PIEZO1):c.6614A>G (p.Asn2205Ser)
NM_001142864.4(PIEZO1):c.7463G>A (p.Arg2488Gln)
NM_001142864.4(PIEZO1):c.827C>T (p.Pro276Leu)
NM_001353812.2(ATP11C):c.1520+6G>A
NM_001353812.2(ATP11C):c.2964+3A>G
NM_001355436.2(SPTB):c.1509G>C (p.Lys503Asn)
NM_001355436.2(SPTB):c.1921A>T (p.Lys641Ter)
NM_001355436.2(SPTB):c.2137C>T (p.Gln713Ter)
NM_001355436.2(SPTB):c.2401C>T (p.His801Tyr)
NM_001355436.2(SPTB):c.2711T>C (p.Ile904Thr)
NM_001355436.2(SPTB):c.3005G>A (p.Arg1002His)
NM_001355436.2(SPTB):c.3106del (p.Gln1036fs)
NM_001355436.2(SPTB):c.3854A>C (p.Glu1285Ala)
NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter) rs760938057
NM_001355436.2(SPTB):c.4800dup (p.Gly1601fs)
NM_001355436.2(SPTB):c.4804G>A (p.Glu1602Lys)
NM_001355436.2(SPTB):c.5408del (p.Phe1803fs)
NM_001355436.2(SPTB):c.647+1G>A
NM_001355436.2(SPTB):c.6925G>A (p.Asp2309Asn)
NM_001355436.2(SPTB):c.865C>T (p.Arg289Cys)
NM_001355436.2(SPTB):c.884_925del (p.Asp295_Ser308del)
NM_001360016.2(G6PD):c.1090G>A (p.Glu364Lys)
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys) rs137852325
NM_001376013.1(EPB41):c.1744dup (p.Thr582fs) rs2150754040
NM_001376013.1(EPB41):c.2269A>G (p.Ile757Val)
NM_001376013.1(EPB41):c.415C>T (p.Leu139Phe)
NM_001386140.1(MTTP):c.1072C>T (p.Gln358Ter)
NM_001386140.1(MTTP):c.1705C>T (p.Gln569Ter) rs1725885571
NM_001724.5(BPGM):c.679C>T (p.Arg227Cys)
NM_002049.4(GATA1):c.170_173dup (p.Ala59fs)
NM_003126.4(SPTA1):c.5019G>C (p.Leu1673Phe)
NM_003126.4(SPTA1):c.5261A>G (p.Lys1754Arg)
NM_003126.4(SPTA1):c.6221C>T (p.Ser2074Phe)
NM_003126.4(SPTA1):c.83G>A (p.Arg28His) rs121918641
NM_006363.6(SEC23B):c.1142C>T (p.Thr381Ile)
NM_006363.6(SEC23B):c.490del (p.Val164fs)
NM_006563.5(KLF1):c.587C>T (p.Pro196Leu)
NM_006563.5(KLF1):c.913+1G>A rs483352840
NM_006563.5(KLF1):c.973G>A (p.Glu325Lys) rs267607201
NM_133459.4(CCBE1):c.2T>G (p.Met1Arg)
NM_138477.4(CDAN1):c.134T>C (p.Leu45Pro)
NM_138477.4(CDAN1):c.2185T>G (p.Leu729Val)
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp) rs80338697
NM_138477.4(CDAN1):c.885_886del (p.Arg295fs)

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