List of variants reported as pathogenic for Niemann-Pick disease, type A by Counsyl

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)	rs120074128	0.00001
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly)	rs120074125
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)	rs120074127
NM_000543.5(SMPD1):c.7del (p.Arg3fs)	rs281860663
NM_000543.5(SMPD1):c.842_849dup (p.His284fs)	rs281860677
NM_000543.5(SMPD1):c.84del (p.Gly29fs)	rs750157176

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