List of variants reported as likely benign for Niemann-Pick disease, type A by Illumina Laboratory Services, Illumina

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.-45G>C	rs79282481	0.01446
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln)	rs2634197	0.00668
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln)	rs113467489	0.00629
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)	rs72896268	0.00571
NM_000543.5(SMPD1):c.813T>C (p.Pro271=)	rs61876771	0.00500
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)	rs2723669	0.00374
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile)	rs142178073	0.00371
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)	rs141641266	0.00282
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)	rs200652683	0.00001

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