ClinVar Miner

List of variants in gene NPC1 reported by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Gene type:
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Total variants: 4
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NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu) rs372445155
NM_000271.5(NPC1):c.2050C>T (p.Leu684Phe) rs1057518942
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly) rs113371321

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