List of variants reported as pathogenic for familial hemolytic anemia by 3billion, Medical Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000298.6(PKLR):c.1015del (p.Asp339fs)	rs1193689718
NM_000298.6(PKLR):c.808C>T (p.Arg270Ter)
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)	rs121912751
NM_000402.4(G6PD):c.1268G>A (p.Arg423His)	rs137852316
NM_001002010.5(NT5C3A):c.718G>T (p.Glu240Ter)	rs925502732
NM_001386140.1(MTTP):c.640del (p.Ala214fs)	rs2110218614
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His)	rs774455945
NM_003126.4(SPTA1):c.3139C>T (p.Arg1047Ter)	rs762088983

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