ClinVar Miner

List of variants in gene NPC1 reported as benign for not specified

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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_000271.4(NPC1):c.-22A>C rs2303880
NM_000271.4(NPC1):c.1071G>A (p.Ser357=) rs61731964
NM_000271.4(NPC1):c.1232G>A (p.Arg411Gln) rs77080672
NM_000271.4(NPC1):c.1300C>T (p.Pro434Ser) rs61731962
NM_000271.4(NPC1):c.1503C>T (p.Asp501=) rs116046557
NM_000271.4(NPC1):c.1532C>T (p.Thr511Met) rs13381670
NM_000271.4(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.4(NPC1):c.1947+10G>A rs71534236
NM_000271.4(NPC1):c.1947+10G>C rs71534236
NM_000271.4(NPC1):c.1947+13_1947+16dupGGGG rs3837910
NM_000271.4(NPC1):c.1947+14G>T rs3745024
NM_000271.4(NPC1):c.1947+16_1947+17insGGG rs3837910
NM_000271.4(NPC1):c.1947+16dupG rs3837910
NM_000271.4(NPC1):c.1947+7dupC rs1555634619
NM_000271.4(NPC1):c.1947+8G>C rs66620415
NM_000271.4(NPC1):c.1947+9_1947+10insC
NM_000271.4(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.4(NPC1):c.2103C>T (p.Asn701=) rs7227375
NM_000271.4(NPC1):c.2131-4delT rs11299077
NM_000271.4(NPC1):c.2131-6_2131-4delTTT rs11299077
NM_000271.4(NPC1):c.2514+6C>T rs73392120
NM_000271.4(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.4(NPC1):c.2731G>A (p.Gly911Ser) rs34302553
NM_000271.4(NPC1):c.2793C>T (p.Asn931=) rs1140458
NM_000271.4(NPC1):c.2795+19T>C rs200103695
NM_000271.4(NPC1):c.2882A>G (p.Asn961Ser) rs34084984
NM_000271.4(NPC1):c.2911+28T>C rs6507720
NM_000271.4(NPC1):c.3246-20G>A rs6507717
NM_000271.4(NPC1):c.3246-46C>T rs117851153
NM_000271.4(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.4(NPC1):c.3343G>T (p.Val1115Phe) rs34226296
NM_000271.4(NPC1):c.3477+4A>G rs114073738
NM_000271.4(NPC1):c.3535A>G (p.Met1179Val) rs61731969
NM_000271.4(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.4(NPC1):c.3754+34A>G rs2510344
NM_000271.4(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084
NM_000271.4(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.4(NPC1):c.445G>A (p.Gly149Arg) rs143205855
NM_000271.4(NPC1):c.612C>T (p.Thr204=) rs151084683
NM_000271.4(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000271.4(NPC1):c.709C>T (p.Pro237Ser) rs80358251

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