List of variants studied for familial hemolytic anemia by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)	rs112884419	0.00161
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)	rs121918221	0.00024
NM_000037.4(ANK1):c.2389-10C>T	rs764935260	0.00010
NM_001142864.4(PIEZO1):c.6679G>A (p.Ala2227Thr)	rs776039915	0.00005
NM_006363.6(SEC23B):c.689+1G>A	rs398124226	0.00003
NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter)	rs751026146	0.00001
NM_000037.4(ANK1):c.1948A>G (p.Met650Val)	rs1057518790
NM_000037.4(ANK1):c.4855G>T (p.Glu1619Ter)	rs774067157
NM_000342.4(SLC4A1):c.1153G>C (p.Asp385His)	rs2047407019
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)	rs72554665
NM_003126.4(SPTA1):c.2805+7T>G	rs1652909073
NM_003126.4(SPTA1):c.5433-132G>A	rs1650943500
NM_006363.6(SEC23B):c.436G>A (p.Ala146Thr)	rs2060116077
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly)	rs761034212

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