List of variants studied for familial hemolytic anemia by New York Genome Center

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001002010.5(NT5C3A):c.325A>C (p.Lys109Gln)	rs144452782	0.00113
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu)	rs146045390	0.00049
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)	rs144600401	0.00028
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)	rs372321643	0.00004
NM_001386140.1(MTTP):c.501+8C>T	rs773537875	0.00004
NM_001386140.1(MTTP):c.1391C>A (p.Ala464Glu)	rs756155398	0.00002
NM_001386140.1(MTTP):c.1325A>G (p.Asn442Ser)	rs368711749	0.00001
G6PD A-
NM_001142864.4(PIEZO1):c.7367G>C (p.Arg2456Pro)
NM_001360016.2(G6PD):c.72T>A (p.Asp24Glu)	rs1557233192
NM_001386140.1(MTTP):c.1139A>T (p.Asp380Val)
NM_001386140.1(MTTP):c.2011C>A (p.Leu671Met)
NM_001386140.1(MTTP):c.2663G>A (p.Ser888Asn)
NM_003126.4(SPTA1):c.3331G>A (p.Asp1111Asn)	rs760205675

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