List of variants reported as pathogenic for Niemann-Pick disease type C by Counsyl

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)	rs543206298	0.00010
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)	rs200444084	0.00002
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)	rs139751448	0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)	rs398123284	0.00001
NM_000271.5(NPC1):c.1628del (p.Pro543fs)	rs1555635957
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter)	rs777286835
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter)	rs759826138
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)	rs80358254
NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter)	rs750095738
NM_000271.5(NPC1):c.352_353del (p.Gln119fs)	rs759075595
NM_000271.5(NPC1):c.3562del (p.Glu1188fs)	rs758231839
NM_000271.5(NPC1):c.852del (p.Phe284fs)	rs762124334
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter)	rs80358266
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)	rs80358260

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