ClinVar Miner

List of variants in gene NPC1 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 5
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HGVS dbSNP
NM_000271.5(NPC1):c.2131-14_2131-4del rs11299077
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966
NM_000271.5(NPC1):c.3059G>C (p.Ser1020Thr) rs374719153
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142

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