ClinVar Miner

List of variants in gene RPN2 reported as uncertain significance for Congenital disorder of glycosylation

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_002951.5(RPN2):c.1855C>T (p.Arg619Trp) rs143714251 0.00011
NM_002951.5(RPN2):c.1685G>A (p.Arg562Gln) rs200070240 0.00008
NM_002951.5(RPN2):c.196C>T (p.Pro66Ser) rs148488636 0.00003
NM_002951.5(RPN2):c.244A>G (p.Ser82Gly) rs745748573 0.00003
NM_002951.5(RPN2):c.1057G>A (p.Glu353Lys) rs752827679 0.00002
NM_002951.5(RPN2):c.479C>T (p.Ala160Val) rs372064976 0.00002
NM_002951.5(RPN2):c.1100T>C (p.Val367Ala) rs977981583 0.00001
NM_002951.5(RPN2):c.119C>T (p.Ser40Leu) rs773226770 0.00001
NM_002951.5(RPN2):c.1316A>G (p.His439Arg) rs774595023 0.00001
NM_002951.5(RPN2):c.1363A>C (p.Asn455His) rs754734597 0.00001
NM_002951.5(RPN2):c.1540G>A (p.Val514Ile) rs2068196334 0.00001
NM_002951.5(RPN2):c.1693G>C (p.Ala565Pro) rs1221047768 0.00001
NM_002951.5(RPN2):c.286G>C (p.Ala96Pro) rs755624455 0.00001
NM_002951.5(RPN2):c.539T>C (p.Ile180Thr) rs759056271 0.00001
NM_002951.5(RPN2):c.64G>A (p.Ala22Thr) rs766325221 0.00001
NM_002951.5(RPN2):c.935C>G (p.Ser312Cys) rs371734476 0.00001
NM_002951.5(RPN2):c.1019A>G (p.Lys340Arg)
NM_002951.5(RPN2):c.1033_1034delinsGG (p.Tyr345Gly) rs2067737486
NM_002951.5(RPN2):c.1310G>A (p.Arg437Gln)
NM_002951.5(RPN2):c.1322A>G (p.Gln441Arg) rs759843584
NM_002951.5(RPN2):c.1495-19_1495-18del
NM_002951.5(RPN2):c.1535C>T (p.Ser512Leu)
NM_002951.5(RPN2):c.157T>C (p.Tyr53His) rs1361242331
NM_002951.5(RPN2):c.1608G>T (p.Arg536Ser)
NM_002951.5(RPN2):c.1618G>A (p.Val540Met)
NM_002951.5(RPN2):c.1628A>G (p.Asn543Ser)
NM_002951.5(RPN2):c.1656_1657delinsCA (p.Leu553Met) rs1600843838
NM_002951.5(RPN2):c.1672G>A (p.Ala558Thr)
NM_002951.5(RPN2):c.1684C>T (p.Arg562Trp)
NM_002951.5(RPN2):c.1734A>G (p.Ile578Met)
NM_002951.5(RPN2):c.1771T>C (p.Tyr591His)
NM_002951.5(RPN2):c.184G>A (p.Gly62Ser)
NM_002951.5(RPN2):c.185G>C (p.Gly62Ala)
NM_002951.5(RPN2):c.193G>T (p.Val65Leu)
NM_002951.5(RPN2):c.218C>T (p.Thr73Ile)
NM_002951.5(RPN2):c.227G>C (p.Arg76Thr)
NM_002951.5(RPN2):c.254A>G (p.Asp85Gly)
NM_002951.5(RPN2):c.25G>A (p.Val9Ile)
NM_002951.5(RPN2):c.313T>G (p.Ser105Ala) rs750026130
NM_002951.5(RPN2):c.395T>G (p.Leu132Arg) rs2067322572
NM_002951.5(RPN2):c.442del (p.Thr149fs)
NM_002951.5(RPN2):c.446C>T (p.Thr149Ile)
NM_002951.5(RPN2):c.51A>G (p.Ile17Met)
NM_002951.5(RPN2):c.546G>T (p.Glu182Asp)
NM_002951.5(RPN2):c.673G>A (p.Glu225Lys)
NM_002951.5(RPN2):c.692A>G (p.Asp231Gly)
NM_002951.5(RPN2):c.715G>A (p.Ala239Thr)
NM_002951.5(RPN2):c.773C>T (p.Ala258Val)
NM_002951.5(RPN2):c.797G>T (p.Arg266Leu)
NM_002951.5(RPN2):c.805G>A (p.Val269Met) rs111986827
NM_002951.5(RPN2):c.85C>T (p.Leu29Phe)
NM_002951.5(RPN2):c.873A>G (p.Gln291=)
NM_002951.5(RPN2):c.881A>G (p.Asn294Ser)
NM_002951.5(RPN2):c.913G>C (p.Val305Leu) rs2146607830

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