ClinVar Miner

List of variants studied for Niemann-Pick disease, type A by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.340G>A (p.Val114Met)	rs142215226	0.00061
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys)	rs371837210

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