List of variants reported as pathogenic for familial hemolytic anemia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00270
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	rs76723693	0.00154
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)	rs121918221	0.00024
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp)	rs80338696	0.00008
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)	rs199422220	0.00004
NM_001386140.1(MTTP):c.1867+1G>A	rs764189338	0.00004
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter)	rs146064714	0.00004
NM_000375.3(UROS):c.10C>T (p.Leu4Phe)	rs121908015	0.00003
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter)	rs199939108	0.00002
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)	rs187131358	0.00001
NM_000324.3(RHAG):c.1067+1G>A	rs1562012617	0.00001
NM_001386140.1(MTTP):c.1392del (p.Glu465fs)	rs1725827570	0.00001
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter)	rs199422219	0.00001
NM_001386140.1(MTTP):c.1867+5G>A	rs1429774833	0.00001
NC_000019.9:g.(34884972_34887205)_(34893319_?)del
NM_000037.4(ANK1):c.841C>T (p.Arg281Ter)	rs1829712320
NM_001360016.2(G6PD):c.[376A>G;968T>C]
NM_001386140.1(MTTP):c.2212del (p.Ser738fs)	rs755681036
NM_001386140.1(MTTP):c.2342+1G>A
NM_001386140.1(MTTP):c.419dup (p.Asn140fs)	rs762901763
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup)	rs757679761
NM_006363.6(SEC23B):c.1733T>C (p.Leu578Pro)

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