List of variants studied for Niemann-Pick disease, type B by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)	rs727504166	0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)	rs1057517195	0.00004
NM_000543.5(SMPD1):c.940G>A (p.Val314Met)	rs1228068212	0.00003
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)	rs120074126	0.00001
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter)	rs1554934212	0.00001
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.96G>A (p.Trp32Ter)	rs786204506

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