List of variants reported as likely pathogenic by Alexion Pharmaceuticals, Inc

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 39

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HGVS	dbSNP	gnomAD frequency
NM_000235.4(LIPA):c.256C>T (p.His86Tyr)	rs749180806	0.00002
NM_000235.4(LIPA):c.367A>G (p.Asn123Asp)	rs771904218	0.00002
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro)	rs772684869	0.00001
NM_000235.4(LIPA):c.1079T>A (p.Ile360Asn)	rs776294856	0.00001
NM_000235.4(LIPA):c.1106T>C (p.Ile369Thr)	rs747214463	0.00001
NM_000235.4(LIPA):c.1120C>T (p.His374Tyr)	rs367664486	0.00001
NM_000235.4(LIPA):c.1163A>G (p.Tyr388Cys)	rs766062562	0.00001
NM_000235.4(LIPA):c.294C>G (p.Asn98Lys)	rs767688436	0.00001
NM_000235.4(LIPA):c.386A>G (p.His129Arg)	rs1423914418	0.00001
NM_000235.4(LIPA):c.455T>C (p.Leu152Pro)	rs748267444	0.00001
NM_000235.4(LIPA):c.605C>T (p.Pro202Leu)	rs1393039920	0.00001
NM_000235.4(LIPA):c.863C>T (p.Thr288Ile)	rs1306336545	0.00001
NM_000235.4(LIPA):c.871C>G (p.Gln291Glu)	rs754124986	0.00001
NM_000235.4(LIPA):c.920C>A (p.Ala307Asp)	rs754964952	0.00001
NM_000235.4(LIPA):c.974C>T (p.Pro325Leu)	rs1326903845	0.00001
NM_000235.4(LIPA):c.1024G>T (p.Gly342Trp)	rs776472526
NM_000235.4(LIPA):c.1025G>T (p.Gly342Val)	rs768826988
NM_000235.4(LIPA):c.1033G>A (p.Asp345Asn)	rs1446626293
NM_000235.4(LIPA):c.1158G>C (p.Arg386Ser)	rs529668674
NM_000235.4(LIPA):c.149A>G (p.Glu50Gly)	rs772137750
NM_000235.4(LIPA):c.158T>G (p.Val53Gly)	rs749625288
NM_000235.4(LIPA):c.170A>G (p.Asp57Gly)	rs768411839
NM_000235.4(LIPA):c.170A>T (p.Asp57Val)	rs768411839
NM_000235.4(LIPA):c.253C>A (p.Gln85Lys)	rs797045094
NM_000235.4(LIPA):c.254A>G (p.Gln85Arg)	rs1589558414
NM_000235.4(LIPA):c.283T>A (p.Trp95Arg)	rs1554866097
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg)	rs766364179
NM_000235.4(LIPA):c.316T>A (p.Phe106Ile)	rs773533216
NM_000235.4(LIPA):c.356A>G (p.Asn119Ser)	rs1589558218
NM_000235.4(LIPA):c.361A>G (p.Arg121Gly)	rs912441212
NM_000235.4(LIPA):c.377C>T (p.Ser126Phe)	rs1589558169
NM_000235.4(LIPA):c.386A>C (p.His129Pro)	rs1423914418
NM_000235.4(LIPA):c.417C>A (p.Phe139Leu)	rs1589558062
NM_000235.4(LIPA):c.435T>A (p.Asp145Glu)	rs760901300
NM_000235.4(LIPA):c.526G>A (p.Gly176Ser)	rs1589556901
NM_000235.4(LIPA):c.866C>G (p.Ser289Cys)	rs1589553174
NM_000235.4(LIPA):c.881T>C (p.Leu294Ser)	rs756310979
NM_000235.4(LIPA):c.922T>G (p.Phe308Val)	rs751625944
NM_000235.4(LIPA):c.931G>A (p.Gly311Arg)	rs1589548972

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