List of variants studied for Niemann-Pick disease, type A by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser)	rs144873307	0.00111
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)	rs120074126	0.00001
NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser)	rs1342372980
NM_000543.5(SMPD1):c.1244C>T (p.Ala415Val)
NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn)	rs747342458
NM_000543.5(SMPD1):c.679C>G (p.Leu227Val)

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