ClinVar Miner

List of variants in gene NPC1 reported by PreventionGenetics,PreventionGenetics

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Gene type:
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Total variants: 29
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HGVS dbSNP
NM_000271.5(NPC1):c.-22A>C rs2303880
NM_000271.5(NPC1):c.1088C>T (p.Ala363Val) rs774588125
NM_000271.5(NPC1):c.1170G>A (p.Leu390=) rs369109734
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.5(NPC1):c.1947+13_1947+14insT rs1555634643
NM_000271.5(NPC1):c.1947+14G>T rs3745024
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.2100C>T (p.Asp700=) rs372517881
NM_000271.5(NPC1):c.2397C>T (p.Cys799=) rs769196521
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.2911+28T>C rs6507720
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861
NM_000271.5(NPC1):c.3246-20G>A rs6507717
NM_000271.5(NPC1):c.3477+15A>G rs369049242
NM_000271.5(NPC1):c.3561G>A (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3592-42G>C rs149111199
NM_000271.5(NPC1):c.3754+34A>G rs2510344
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000271.5(NPC1):c.881+37C>G rs142700149
NM_000271.5(NPC1):c.956-11C>T rs780491021

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