List of variants reported as pathogenic for Niemann-Pick disease, type C1 by Revvity Omics, Revvity

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)	rs80358259	0.00025
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	rs80358257	0.00021
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)	rs372030650	0.00011
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)	rs543206298	0.00010
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val)	rs753768576	0.00002
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)	rs120074135	0.00001
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)	rs80358254
NM_000271.5(NPC1):c.352_353del (p.Gln119fs)	rs759075595

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