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

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)	rs120074117	0.00010
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)	rs120074124	0.00004
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser)	rs120074119	0.00001
NM_000543.5(SMPD1):c.1152G>A (p.Met384Ile)	rs120074121
NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser)	rs267607074
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu)	rs267607075
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)	rs786204694
NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter)	rs120074120
NM_000543.5(SMPD1):c.996del (p.Phe333fs)	rs387906289

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