ClinVar Miner

List of variants in gene NPC2 reported as uncertain significance for lymphoid system disorder

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_006432.5(NPC2):c.363+7G>A rs200463204 0.00093
NM_006432.5(NPC2):c.212A>G (p.Lys71Arg) rs142075589 0.00031
NM_006432.5(NPC2):c.273T>C (p.Asp91=) rs151071820 0.00031
NM_006432.5(NPC2):c.271G>A (p.Asp91Asn) rs148607507 0.00022
NM_006432.5(NPC2):c.292A>C (p.Asn98His) rs142858704 0.00021
NM_006432.5(NPC2):c.38T>C (p.Leu13Pro) rs147602717 0.00008
NM_006432.5(NPC2):c.-1G>C rs756433737 0.00007
NM_006432.5(NPC2):c.56C>A (p.Ala19Asp) rs369392502 0.00007
NM_006432.5(NPC2):c.333T>G (p.Asn111Lys) rs757377148 0.00005
NM_006432.5(NPC2):c.190+4C>T rs776980208 0.00004
NM_006432.5(NPC2):c.169G>A (p.Val57Ile) rs774036281 0.00003
NM_006432.5(NPC2):c.305A>G (p.Gln102Arg) rs930750290 0.00003
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe) rs143960270 0.00002
NM_006432.5(NPC2):c.115G>A (p.Val39Met) rs80358261 0.00001
NM_006432.5(NPC2):c.160T>C (p.Ser54Pro) rs767080399 0.00001
NM_006432.5(NPC2):c.191A>T (p.Asn64Ile) rs1391222276 0.00001
NM_006432.5(NPC2):c.240C>T (p.Gly80=) rs773836291 0.00001
NM_006432.5(NPC2):c.364-3C>T rs927248655 0.00001
NM_006432.5(NPC2):c.406C>G (p.Gln136Glu) rs2086648005 0.00001
NM_006432.5(NPC2):c.414C>A (p.Leu138=) rs1323196897 0.00001
NM_006432.5(NPC2):c.86C>G (p.Ser29Cys) rs753010998 0.00001
NC_000014.9:g.(?_74480254)_(74486456_?)del
NM_006432.5(NPC2):c.100A>G (p.Ile34Val)
NM_006432.5(NPC2):c.13G>A (p.Ala5Thr)
NM_006432.5(NPC2):c.140G>T (p.Cys47Phe) rs1555345993
NM_006432.5(NPC2):c.146T>C (p.Leu49Pro)
NM_006432.5(NPC2):c.161C>G (p.Ser54Cys)
NM_006432.5(NPC2):c.165C>T (p.Tyr55=) rs2086712268
NM_006432.5(NPC2):c.202A>G (p.Lys68Glu) rs750426509
NM_006432.5(NPC2):c.202_203inv (p.Lys68Leu)
NM_006432.5(NPC2):c.217G>A (p.Val73Met)
NM_006432.5(NPC2):c.232C>G (p.Leu78Val)
NM_006432.5(NPC2):c.241G>A (p.Val81Ile)
NM_006432.5(NPC2):c.259A>T (p.Ile87Phe)
NM_006432.5(NPC2):c.262C>T (p.Pro88Ser) rs2139668049
NM_006432.5(NPC2):c.296G>T (p.Cys99Phe)
NM_006432.5(NPC2):c.298C>A (p.Pro100Thr)
NM_006432.5(NPC2):c.303C>G (p.Ile101Met)
NM_006432.5(NPC2):c.332del (p.Asn111fs) rs80358265
NM_006432.5(NPC2):c.349A>C (p.Ser117Arg)
NM_006432.5(NPC2):c.352G>A (p.Glu118Lys) rs80358266
NM_006432.5(NPC2):c.358C>A (p.Pro120Thr)
NM_006432.5(NPC2):c.373G>T (p.Val125Leu)
NM_006432.5(NPC2):c.381G>C (p.Glu127Asp) rs1412520435
NM_006432.5(NPC2):c.388C>T (p.Leu130Phe)
NM_006432.5(NPC2):c.400A>C (p.Lys134Gln)
NM_006432.5(NPC2):c.417CTG[1] (p.Cys140del) rs781255433
NM_006432.5(NPC2):c.437A>G (p.Gln146Arg) rs2139664443
NM_006432.5(NPC2):c.442-1G>A rs1555345562
NM_006432.5(NPC2):c.454T>C (p.Ter152Gln) rs2086642019
NM_006432.5(NPC2):c.58G>A (p.Glu20Lys) rs80358260
NM_006432.5(NPC2):c.62C>A (p.Pro21Gln)
NM_006432.5(NPC2):c.82+6C>T rs1450006465
NM_006432.5(NPC2):c.94G>A (p.Gly32Arg)

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