ClinVar Miner

List of variants studied for Niemann-Pick disease, type A by Laboratory of Metabolic Disorders, Peking University First Hospital

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.1491_1503del (p.Gly496_Tyr497insTer) rs875989834
NM_000543.5(SMPD1):c.1498T>A (p.Tyr500Asn) rs771336819
NM_000543.5(SMPD1):c.1673T>C (p.Leu558Pro) rs875989836
NM_000543.5(SMPD1):c.521_522insT (p.Ser175fs) rs875989833
NM_000543.5(SMPD1):c.565_566insC (p.Lys189fs) rs875989835
NM_000543.5(SMPD1):c.795del (p.Leu266fs) rs875989832
NM_000543.5(SMPD1):c.952G>A (p.Val318Met) rs875989837

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