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

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 25

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HGVS	dbSNP
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu)	rs1555637232
NM_000271.5(NPC1):c.1138C>T (p.Leu380Phe)	rs1435915496
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp)	rs1298238512
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)	rs1555636659
NM_000271.5(NPC1):c.1480G>A (p.Val494Met)	rs199812609
NM_000271.5(NPC1):c.1506_1508CTT[1] (p.Phe504del)	rs1555636605
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys)
NM_000271.5(NPC1):c.2234C>A (p.Ala745Glu)	rs752386083
NM_000271.5(NPC1):c.2269G>A (p.Val757Met)	rs777156729
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln)	rs373274825
NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe)	rs759628748
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)	rs145362908
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)	rs190298665
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn)	rs1428599096
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)	rs150334966
NM_000271.5(NPC1):c.3130G>A (p.Val1044Met)
NM_000271.5(NPC1):c.3205A>G (p.Met1069Val)	rs1567946736
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)	rs141440861
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)	rs1338658857
NM_000271.5(NPC1):c.350A>G (p.Gln117Arg)	rs1567977251
NM_000271.5(NPC1):c.3527C>T (p.Thr1176Met)
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His)
NM_000271.5(NPC1):c.3821G>A (p.Arg1274Gln)	rs151305963
NM_000271.5(NPC1):c.563A>G (p.Asn188Ser)
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys)	rs138151007

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