ClinVar Miner

List of variants reported as likely pathogenic for Niemann-Pick disease, type C2

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe) rs143960270 0.00002
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_006432.5(NPC2):c.116_117dup (p.Ser40Ter)
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.5(NPC2):c.142C>T (p.Gln48Ter) rs2086712538
NM_006432.5(NPC2):c.148_149del (p.Ser50fs)
NM_006432.5(NPC2):c.154G>T (p.Gly52Ter)
NM_006432.5(NPC2):c.184_185del (p.Thr62fs)
NM_006432.5(NPC2):c.190+1G>C
NM_006432.5(NPC2):c.191-1G>A
NM_006432.5(NPC2):c.191-1_193del rs1555345873
NM_006432.5(NPC2):c.1A>G (p.Met1Val) rs1555346369
NM_006432.5(NPC2):c.218del (p.Val73fs)
NM_006432.5(NPC2):c.249_250insAATTCCA (p.Pro84fs)
NM_006432.5(NPC2):c.297C>A (p.Cys99Ter) rs2086687936
NM_006432.5(NPC2):c.297C>G (p.Cys99Trp) rs2086687936
NM_006432.5(NPC2):c.2T>C (p.Met1Thr) rs1555346368
NM_006432.5(NPC2):c.304C>T (p.Gln102Ter) rs2086687862
NM_006432.5(NPC2):c.334A>T (p.Lys112Ter) rs2086687425
NM_006432.5(NPC2):c.336_339delinsCTT (p.Lys112fs)
NM_006432.5(NPC2):c.357T>A (p.Tyr119Ter) rs2086687086
NM_006432.5(NPC2):c.358C>A (p.Pro120Thr)
NM_006432.5(NPC2):c.363+1G>A
NM_006432.5(NPC2):c.364-2A>G rs777654308
NM_006432.5(NPC2):c.3G>A (p.Met1Ile) rs483352893
NM_006432.5(NPC2):c.422G>A (p.Trp141Ter) rs1555345616
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter) rs104894457
NM_006432.5(NPC2):c.64_65delinsCTCACC (p.Val22fs)
NM_006432.5(NPC2):c.67C>T (p.Gln23Ter)
NM_006432.5(NPC2):c.91del (p.Asp31fs)

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