List of variants reported as uncertain significance for Niemann-Pick disease, type C2 by Natera, Inc.

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_006432.5(NPC2):c.212A>G (p.Lys71Arg)	rs142075589	0.00031
NM_006432.5(NPC2):c.271G>A (p.Asp91Asn)	rs148607507	0.00022
NM_006432.5(NPC2):c.292A>C (p.Asn98His)	rs142858704	0.00021
NM_006432.5(NPC2):c.-1G>C	rs756433737	0.00007
NM_006432.5(NPC2):c.56C>A (p.Ala19Asp)	rs369392502	0.00007
NM_006432.5(NPC2):c.169G>A (p.Val57Ile)	rs774036281	0.00003
NM_006432.5(NPC2):c.414C>A (p.Leu138=)	rs1323196897	0.00001
NM_006432.5(NPC2):c.165C>T (p.Tyr55=)	rs2086712268
NM_006432.5(NPC2):c.454T>C (p.Ter152Gln)	rs2086642019
NM_006432.5(NPC2):c.58G>A (p.Glu20Lys)	rs80358260

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