ClinVar Miner

List of variants reported as pathogenic for Niemann-Pick disease type C by Centogene AG - the Rare Disease Company

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.2777C>T (p.Ala926Val) rs730880963 0.00002
NM_000271.4(NPC1):c.2134_2135del
NM_000271.4(NPC1):c.3249_3250del
NM_000271.5(NPC1):c.1084_1093del (p.Thr362fs)
NM_000271.5(NPC1):c.1097C>G (p.Ser366Ter) rs1278305591
NM_000271.5(NPC1):c.1110_1113del (p.Val371fs)
NM_000271.5(NPC1):c.1180_1181dup (p.Phe395fs)
NM_000271.5(NPC1):c.1238dup (p.Leu414fs)
NM_000271.5(NPC1):c.1451del (p.Val484fs)
NM_000271.5(NPC1):c.1612_1619dup (p.Phe542fs)
NM_000271.5(NPC1):c.1628del (p.Pro543fs) rs1555635957
NM_000271.5(NPC1):c.1654+1dup
NM_000271.5(NPC1):c.1747_1755delinsAT (p.Trp583fs)
NM_000271.5(NPC1):c.1757+1G>T
NM_000271.5(NPC1):c.1757+2T>G
NM_000271.5(NPC1):c.1757+2_1757+3del
NM_000271.5(NPC1):c.2077del (p.Leu693fs)
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
NM_000271.5(NPC1):c.2130+1G>C
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
NM_000271.5(NPC1):c.2158_2162del (p.Leu720fs)
NM_000271.5(NPC1):c.2515-2A>G
NM_000271.5(NPC1):c.2604+2T>G
NM_000271.5(NPC1):c.2608T>A (p.Ser870Thr) rs2058690179
NM_000271.5(NPC1):c.2612del (p.Tyr871fs)
NM_000271.5(NPC1):c.2647del (p.Leu883fs)
NM_000271.5(NPC1):c.2719del (p.Met907fs)
NM_000271.5(NPC1):c.2736_2751del (p.Met912fs)
NM_000271.5(NPC1):c.2782C>T (p.Gln928Ter)
NM_000271.5(NPC1):c.2908dup (p.Ser970fs)
NM_000271.5(NPC1):c.2978dup (p.Asp994fs) rs775915490
NM_000271.5(NPC1):c.3003del (p.Met1001fs)
NM_000271.5(NPC1):c.3020C>T (p.Pro1007Leu) rs764789542
NM_000271.5(NPC1):c.3032_3038delinsAGGTTTACTC (p.Cys1011_Lys1013delinsTer)
NM_000271.5(NPC1):c.3041+1G>T
NM_000271.5(NPC1):c.3096_3116delinsCAGGTCG (p.Arg1032fs)
NM_000271.5(NPC1):c.3245+1G>T
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter) rs774602107
NM_000271.5(NPC1):c.3281del (p.Ile1094fs)
NM_000271.5(NPC1):c.3347del (p.Leu1116fs)
NM_000271.5(NPC1):c.3412_3413del (p.Met1138fs)
NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) rs1555631998
NM_000271.5(NPC1):c.3559del (p.Ala1187fs)
NM_000271.5(NPC1):c.370dup (p.Thr124fs)
NM_000271.5(NPC1):c.428_429del (p.Glu143fs)
NM_000271.5(NPC1):c.692_693del (p.Val231fs)
NM_000271.5(NPC1):c.749_755del (p.Lys250fs)
NM_000271.5(NPC1):c.754del (p.Gln252fs)
NM_000271.5(NPC1):c.762del (p.Pro255fs)
NM_000271.5(NPC1):c.895del (p.Val299fs)
NM_000271.5(NPC1):c.924_927del (p.Asn308fs)

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