List of variants reported as uncertain significance for Niemann-Pick disease type A by Fulgent Genetics, Fulgent Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.340G>A (p.Val114Met)	rs142215226	0.00061
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile)	rs149939736	0.00051
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg)	rs144465428	0.00014
NM_000543.5(SMPD1):c.1771C>T (p.Arg591Cys)	rs375570126	0.00006
NM_000543.5(SMPD1):c.1833C>G (p.His611Gln)	rs1397949984	0.00001
NM_000543.5(SMPD1):c.211G>A (p.Ala71Thr)	rs375224040	0.00001
NM_000543.5(SMPD1):c.1022G>A (p.Arg341His)	rs200242334
NM_000543.5(SMPD1):c.823G>T (p.Val275Leu)	rs1172255199
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)	rs1803161
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu)	rs202081954

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