List of variants reported as pathogenic for Niemann-Pick disease type C by Fulgent Genetics, Fulgent Genetics

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Total variants: 12

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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.2201G>T (p.Ser734Ile)	rs757475924	0.00014
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.1211G>A (p.Arg404Gln)	rs139751448	0.00001
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu)	rs369368181	0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)	rs398123284	0.00001
NM_000271.5(NPC1):c.1554-1009G>A	rs1055204017
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter)	rs777286835
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)	rs786204512
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)	rs80358260

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