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

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile)	rs149939736	0.00051
NM_000543.5(SMPD1):c.1082G>A (p.Arg361His)	rs148892841	0.00004
NM_000543.5(SMPD1):c.472G>A (p.Ala158Thr)	rs369566518	0.00004
NM_000543.5(SMPD1):c.1010A>G (p.Asn337Ser)	rs761144309	0.00003
NM_000543.5(SMPD1):c.1477C>T (p.Leu493Phe)	rs1345053174	0.00002
NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu)	rs772473982	0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg)	rs794727629	0.00001
NM_000543.5(SMPD1):c.1360G>A (p.Ala454Thr)	rs144624998	0.00001
NM_000543.5(SMPD1):c.1660G>A (p.Ala554Thr)	rs758811926	0.00001
NM_000543.5(SMPD1):c.305A>G (p.Asn102Ser)	rs373475928	0.00001
NM_000543.5(SMPD1):c.712G>A (p.Ala238Thr)	rs748936934	0.00001
NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu)	rs1554933800
NM_000543.5(SMPD1):c.108_109insGCGCTGGCGCTGGCGCTGGCG (p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAla)	rs775568984
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)	rs1803161

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