List of variants reported as benign for Niemann-Pick disease, type A by Genome-Nilou Lab

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala)	rs1050228	0.44445
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg)	rs1050239	0.19762
NM_000543.5(SMPD1):c.636T>C (p.Asp212=)	rs7951904	0.15081
NM_000543.5(SMPD1):c.1749G>A (p.Ser583=)	rs35098198	0.01843
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)	rs72896268	0.00571
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])	rs3838786

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