ClinVar Miner

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

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Total variants: 3

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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.1244C>T (p.Ala415Val)
NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn)	rs747342458

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