List of variants reported as uncertain significance for Niemann-Pick disease, type A by Genome-Nilou Lab

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Total variants: 5

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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.340G>A (p.Val114Met)	rs142215226	0.00061
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)	rs748589919	0.00001
NM_000543.5(SMPD1):c.1022G>A (p.Arg341His)	rs200242334
NM_000543.5(SMPD1):c.1810G>A (p.Asp604Asn)	rs2134024509

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