ClinVar Miner

List of variants studied for Niemann-Pick disease type C by GeneReviews

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_000271.5(NPC1):c.1926= (p.Met642=) rs1788799
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro) rs80358253
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr) rs80358258
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_006432.4(NPC2):c.115G>A (p.Val39Met) rs80358261
NM_006432.4(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.4(NPC2):c.141C>A (p.Cys47Ter) rs80358263
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.295T>C (p.Cys99Arg) rs80358264
NM_006432.4(NPC2):c.332del (p.Asn111fs) rs80358265
NM_006432.4(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.4(NPC2):c.58G>T (p.Glu20Ter) rs80358260

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