List of variants reported for Niemann-Pick disease, type B; Niemann-Pick disease, type A by Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)	rs120074126	0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)	rs1554935669	0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp)	rs779927660	0.00001
NM_000543.5(SMPD1):c.1518C>A (p.Tyr506Ter)	rs943924098
NM_000543.5(SMPD1):c.469G>A (p.Glu157Lys)	rs2134009384
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe)	rs1847925080

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