List of variants reported as pathogenic for Niemann-Pick disease, type A by Natera, Inc.

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)	rs182812968	0.00004
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)	rs120074124	0.00004
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter)	rs755160837	0.00001
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)	rs120074126	0.00001
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys)	rs747143343	0.00001
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs)	rs759389193	0.00001
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)	rs370129081	0.00001
NM_000543.5(SMPD1):c.573del (p.Ser192fs)	rs727504167	0.00001
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys)	rs989639224	0.00001
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)	rs750779804	0.00001
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)	rs120074128	0.00001
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly)	rs120074125
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)	rs120074127
NM_000543.5(SMPD1):c.1380del (p.His461fs)	rs1848061158
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs)	rs398123476
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu)	rs267607075
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)	rs398123478
NM_000543.5(SMPD1):c.1630del (p.Thr544fs)	rs770962157
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs)	rs1437508852
NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter)	rs1554934193
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)	rs786204694
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)	rs797044798
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)	rs794727252
NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter)	rs120074120
NM_000543.5(SMPD1):c.839A>C (p.Asp280Ala)	rs1847935299
NM_000543.5(SMPD1):c.84del (p.Gly29fs)	rs750157176
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)	rs786204506
NM_000543.5(SMPD1):c.996del (p.Phe333fs)	rs387906289

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