ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP
NM_006432.4(NPC2):c.140G>T (p.Cys47Phe) rs1555345993
NM_006432.4(NPC2):c.333T>G (p.Asn111Lys) rs757377148
NM_006432.4(NPC2):c.417_419CTG[1] (p.Cys140del) rs781255433
NM_006432.4(NPC2):c.442-1G>A rs1555345562

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