ClinVar Miner

List of variants in gene NPC1 reported as pathogenic by Invitae

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Total variants: 11
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NM_000271.4(NPC1):c.2713C>T (p.Gln905Ter) rs917070773
NM_000271.4(NPC1):c.2861C>T (p.Ser954Leu) rs543206298
NM_000271.4(NPC1):c.2972_2973delAG (p.Gln991Argfs) rs756815030
NM_000271.4(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.4(NPC1):c.306T>G (p.Tyr102Ter)
NM_000271.4(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.4(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.4(NPC1):c.3234_3237dupATTT rs863224902
NM_000271.4(NPC1):c.3517dup (p.Arg1173Lysfs) rs1555631982
NM_000271.4(NPC1):c.721C>T (p.Gln241Ter) rs1064795718
NM_000271.4(NPC1):c.852delT (p.Phe284Leufs) rs762124334

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