ClinVar Miner

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

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_000271.5(NPC1):c.1133T>C (p.Val378Ala) rs120074134
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) rs483352886
NM_000271.5(NPC1):c.2783A>C (p.Gln928Pro) rs28940897
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) rs28942108
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) rs28942107
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg) rs120074136
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser) rs28942105
NM_000271.5(NPC1):c.3591+1G>A rs786200877
NM_000271.5(NPC1):c.3611_3614del (p.Leu1204fs) rs786200879
NM_000271.5(NPC1):c.3662del (p.Phe1221fs) rs786200878
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252
NM_006432.4(NPC2):c.115G>A (p.Val39Met) rs80358261
NM_006432.4(NPC2):c.190+5G>A rs80358268
NM_006432.4(NPC2):c.199T>C (p.Ser67Pro) rs11694
NM_006432.4(NPC2):c.27del (p.Leu10fs) rs80358267
NM_006432.4(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.4(NPC2):c.358C>T (p.Pro120Ser) rs104894458
NM_006432.4(NPC2):c.436C>T (p.Gln146Ter) rs104894457
NM_006432.4(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006432.4(NPC2):c.82+2T>C rs879253740
NPC1, IVS16, G-A, -82
NPC2, 1-BP DEL, 111A

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