ClinVar Miner

List of variants reported as not provided for Niemann-Pick disease type C

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_000271.5(NPC1):c.1926= (p.Met642=) rs1788799 0.26043
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084 0.10225
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro) rs80358253 0.00001
NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr) rs80358258 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_006432.5(NPC2):c.115G>A (p.Val39Met) rs80358261 0.00001
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter) rs80358263 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg) rs80358264 0.00001
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.5(NPC2):c.199T>C (p.Ser67Pro) rs11694
NM_006432.5(NPC2):c.27del (p.Leu10fs) rs80358267
NM_006432.5(NPC2):c.332del (p.Asn111fs) rs80358265
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260

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