ClinVar Miner

List of variants in gene NPC1 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 22
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HGVS dbSNP
NM_000271.5(NPC1):c.1194C>G (p.His398Gln)
NM_000271.5(NPC1):c.1480G>A (p.Val494Met) rs199812609
NM_000271.5(NPC1):c.1883A>C (p.Tyr628Ser)
NM_000271.5(NPC1):c.2141G>A (p.Arg714His) rs375047023
NM_000271.5(NPC1):c.2288T>C (p.Phe763Ser) rs568942365
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2546G>T (p.Ser849Ile) rs1057519242
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298
NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter) rs786204586
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030
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.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln) rs534280005
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.5(NPC1):c.346C>T (p.Arg116Ter)
NM_000271.5(NPC1):c.3478-6T>A rs1376131980
NM_000271.5(NPC1):c.3760T>A (p.Ser1254Thr) rs986146604
NM_000271.5(NPC1):c.57+4A>G rs1057519229
NM_000271.5(NPC1):c.579G>A (p.Met193Ile) rs1412585368
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026

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