ClinVar Miner

List of variants studied for Niemann-Pick disease, type A by Myriad Genetics, Inc.

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Total variants: 4

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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.1826GCC[1] (p.Arg610del)	rs120074118
NM_000543.5(SMPD1):c.996del (p.Phe333fs)	rs387906289

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