List of variants reported as pathogenic for familial hemolytic anemia by Baylor Genetics

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_000289.6(PFKM):c.237+1G>A	rs202143236	0.00006
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	0.00004
NM_000289.6(PFKM):c.1500+1G>A	rs770066278	0.00001
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)	rs138893744	0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)	rs76645461	0.00001
NM_003126.4(SPTA1):c.4180del (p.Cys1394fs)	rs779174182	0.00001
NM_000289.6(PFKM):c.2003del (p.Pro668fs)	rs767095759
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)	rs121918195
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg)	rs878853002
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His)	rs587776988
NM_001360016.2(G6PD):c.1361G>C (p.Arg454Pro)	rs137852324
NM_001386140.1(MTTP):c.2578G>T (p.Glu860Ter)	rs1726269709
NM_003126.4(SPTA1):c.3163C>T (p.Gln1055Ter)	rs1652590413
NM_003126.4(SPTA1):c.6813_6814del (p.Glu2271fs)	rs1649424538
NM_006516.4(SLC2A1):c.19-2A>G	rs796053272

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