ClinVar Miner

List of variants reported as likely benign 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: 56
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.2418G>A (p.Glu806=) rs35318623 0.02245
NM_003126.4(SPTA1):c.3693C>T (p.Asp1231=) rs34773716 0.02215
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733 0.01857
NM_001142864.4(PIEZO1):c.3129C>T (p.Leu1043=) rs61742732 0.01802
NM_003126.4(SPTA1):c.2353C>A (p.Arg785=) rs2022057 0.01562
NM_001142864.4(PIEZO1):c.132C>T (p.Phe44=) rs112488313 0.01303
NM_001142864.4(PIEZO1):c.4872A>G (p.Ala1624=) rs35375982 0.01227
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758 0.01205
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
NM_001142864.4(PIEZO1):c.3363A>G (p.Thr1121=) rs35100558 0.01077
NM_001142864.4(PIEZO1):c.6294C>T (p.Tyr2098=) rs35015310 0.00960
NM_001376013.1(EPB41):c.1464-20T>C rs139715164 0.00835
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met) rs139051768 0.00749
NM_001142864.4(PIEZO1):c.5552C>T (p.Thr1851Met) rs34370460 0.00731
NM_003126.4(SPTA1):c.441C>T (p.Thr147=) rs73020287 0.00683
NM_000037.4(ANK1):c.1999-17C>T rs28571216 0.00543
NM_001355436.2(SPTB):c.3764+9G>A rs150423485 0.00537
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=) rs115901854 0.00447
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) rs35597347 0.00444
NM_001142864.4(PIEZO1):c.4955+3G>A rs569520386 0.00382
NM_001142864.4(PIEZO1):c.2330-16C>T rs9940889 0.00354
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_002250.3(KCNN4):c.820-2dup rs574008067 0.00332
NM_005689.4(ABCB6):c.688-9C>T rs146410593 0.00294
NM_005689.4(ABCB6):c.1361T>C (p.Val454Ala) rs61733629 0.00285
NM_001142864.4(PIEZO1):c.7495T>C (p.Leu2499=) rs35736353 0.00265
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro) rs79002951 0.00265
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_001142864.4(PIEZO1):c.7317-5C>T rs150172633 0.00261
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_006363.6(SEC23B):c.993+10C>G rs201948587 0.00173
NM_006516.4(SLC2A1):c.680-12C>T rs150960456 0.00088
NM_000342.4(SLC4A1):c.2482-7C>T rs371728036 0.00063
NM_001355436.2(SPTB):c.4474-17C>T rs192115079 0.00061
NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=) rs139912334 0.00056
NM_000342.4(SLC4A1):c.297C>T (p.Leu99=) rs146541331 0.00046
NM_000342.4(SLC4A1):c.1272C>T (p.Gly424=) rs148115666 0.00035
NM_000342.4(SLC4A1):c.486-18C>T rs201023917 0.00031
NM_002049.4(GATA1):c.174G>A (p.Ala58=) rs139614533 0.00031
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=) rs193011645 0.00023
NM_006563.5(KLF1):c.259C>G (p.Pro87Ala) rs752204035 0.00016
NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr) rs142905862 0.00015
NM_000342.4(SLC4A1):c.1800+12C>T rs556266412 0.00008
NM_000342.4(SLC4A1):c.102G>A (p.Pro34=) rs55898602 0.00006
NM_006516.4(SLC2A1):c.276-9C>T rs529579952 0.00005
NM_000342.4(SLC4A1):c.1800+17C>T rs370756072 0.00004
NM_000342.4(SLC4A1):c.1311G>A (p.Val437=) rs370089486 0.00003
NM_000342.4(SLC4A1):c.876+8A>G rs750432041 0.00003
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=) rs779629178 0.00002
NM_002049.4(GATA1):c.599-9C>T rs1369447266 0.00002
NM_001142864.4(PIEZO1):c.4992G>A (p.Leu1664=) rs186462241 0.00001
NM_000342.4(SLC4A1):c.659T>C (p.Ile220Thr)
NM_000342.4(SLC4A1):c.768G>A (p.Val256=)
NM_000342.4(SLC4A1):c.82G>A (p.Glu28Lys)
NM_001142864.4(PIEZO1):c.1179C>G (p.Ser393=) rs780119372
NM_001142864.4(PIEZO1):c.2664+7del rs556884023

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