ClinVar Miner

List of variants studied for Congenital disorder of glycosylation by Invitae

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Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_002951.5(RPN2):c.1825C>T (p.Leu609=) rs4608 0.77701
NM_002951.5(RPN2):c.691-19C>T rs11698281 0.74319
NM_002951.5(RPN2):c.303+14C>T rs6104015 0.02668
NM_002951.5(RPN2):c.841G>A (p.Asp281Asn) rs34488353 0.01376
NM_002951.5(RPN2):c.1121G>A (p.Gly374Asp) rs117475222 0.01054
NM_002951.5(RPN2):c.1501G>T (p.Val501Leu) rs61731019 0.00868
NM_002951.5(RPN2):c.1300-20T>G rs77838287 0.00228
NM_002951.5(RPN2):c.1014C>T (p.Asn338=) rs138894622 0.00086
NM_002951.5(RPN2):c.867+12A>G rs200663601 0.00063
NM_002951.5(RPN2):c.1663C>T (p.Leu555=) rs144228662 0.00051
NM_002951.5(RPN2):c.188C>T (p.Ala63Val) rs144538512 0.00043
NM_002951.5(RPN2):c.1594G>A (p.Glu532Lys) rs140556886 0.00041
NM_002951.5(RPN2):c.265T>C (p.Tyr89His) rs146315738 0.00029
NM_002951.5(RPN2):c.1653G>A (p.Ser551=) rs150024301 0.00025
NM_002951.5(RPN2):c.986+17T>A rs368786437 0.00023
NM_002951.5(RPN2):c.394C>T (p.Leu132=) rs144151309 0.00015
NM_002951.5(RPN2):c.1582-6C>G rs376939930 0.00013
NM_002951.5(RPN2):c.1398T>G (p.Ser466=) rs372658734 0.00011
NM_002951.5(RPN2):c.14-9C>T rs201610870 0.00011
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.1581+20T>G rs200360517 0.00007
NM_002951.5(RPN2):c.1671C>T (p.Phe557=) rs778038328 0.00007
NM_002951.5(RPN2):c.714C>T (p.Asn238=) rs769587237 0.00007
NM_002951.5(RPN2):c.1678-7C>G rs369515311 0.00004
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.267C>T (p.Tyr89=) rs376223839 0.00003
NM_002951.5(RPN2):c.1057G>A (p.Glu353Lys) rs752827679 0.00002
NM_002951.5(RPN2):c.1536G>A (p.Ser512=) rs557396469 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.1476C>T (p.Asn492=) rs754713504 0.00001
NM_002951.5(RPN2):c.1485C>T (p.Leu495=) rs1040175318 0.00001
NM_002951.5(RPN2):c.1540G>A (p.Val514Ile) rs2068196334 0.00001
NM_002951.5(RPN2):c.1677+20G>A rs181588459 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.475C>T (p.Leu159=) rs117835643 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.840C>T (p.Ser280=) rs535586576 0.00001
NM_002951.5(RPN2):c.935C>G (p.Ser312Cys) rs371734476 0.00001
NM_002951.5(RPN2):c.99C>T (p.Asp33=) rs62206558 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.1093-12A>G
NM_002951.5(RPN2):c.1147G>A (p.Val383Met) rs367758574
NM_002951.5(RPN2):c.1299+12A>T
NM_002951.5(RPN2):c.12G>C (p.Pro4=)
NM_002951.5(RPN2):c.13+11G>T
NM_002951.5(RPN2):c.13+12C>G
NM_002951.5(RPN2):c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT
NM_002951.5(RPN2):c.13+21_13+22insACAGACAGGGCCCCGCGGCCGGCACTCTT rs11467214
NM_002951.5(RPN2):c.13+21_13+22insATAGACAGGGCCCCGCGGCCGGCACTCTT rs11467214
NM_002951.5(RPN2):c.13+21_13+22insATAGACAGGGCCCGCGGCCGGCACTCTT
NM_002951.5(RPN2):c.13+21_13+22insATAGACAGGGCCCGGCGGCCGGCACTCTT
NM_002951.5(RPN2):c.13+21_13+22insATAGACGGGGCCCCGCGGCCGGCACTCTT
NM_002951.5(RPN2):c.1302A>G (p.Thr434=)
NM_002951.5(RPN2):c.1310G>A (p.Arg437Gln)
NM_002951.5(RPN2):c.1322A>G (p.Gln441Arg) rs759843584
NM_002951.5(RPN2):c.1353C>T (p.Ala451=) rs200454814
NM_002951.5(RPN2):c.1371C>T (p.Asn457=)
NM_002951.5(RPN2):c.1372G>A (p.Val458Met) rs114917981
NM_002951.5(RPN2):c.1372G>T (p.Val458Leu) rs114917981
NM_002951.5(RPN2):c.14-4C>G
NM_002951.5(RPN2):c.1495-19_1495-18del
NM_002951.5(RPN2):c.1518T>C (p.Pro506=)
NM_002951.5(RPN2):c.1535C>T (p.Ser512Leu)
NM_002951.5(RPN2):c.1578T>C (p.Ile526=)
NM_002951.5(RPN2):c.157T>C (p.Tyr53His) rs1361242331
NM_002951.5(RPN2):c.1593C>G (p.Arg531=)
NM_002951.5(RPN2):c.1593C>T (p.Arg531=)
NM_002951.5(RPN2):c.1608G>T (p.Arg536Ser)
NM_002951.5(RPN2):c.1617C>T (p.Thr539=)
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.166G>A (p.Val56Met)
NM_002951.5(RPN2):c.1672G>A (p.Ala558Thr)
NM_002951.5(RPN2):c.1677+19C>T
NM_002951.5(RPN2):c.1678-4T>C
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.1839G>A (p.Thr613=)
NM_002951.5(RPN2):c.184G>A (p.Gly62Ser)
NM_002951.5(RPN2):c.185G>C (p.Gly62Ala)
NM_002951.5(RPN2):c.1883+13A>G
NM_002951.5(RPN2):c.193G>T (p.Val65Leu)
NM_002951.5(RPN2):c.207+17C>T
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.303+14C>G rs6104015
NM_002951.5(RPN2):c.303+8C>T rs201883402
NM_002951.5(RPN2):c.313T>G (p.Ser105Ala) rs750026130
NM_002951.5(RPN2):c.321G>A (p.Glu107=) rs2067319229
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.479+15C>T
NM_002951.5(RPN2):c.480-18C>G
NM_002951.5(RPN2):c.484G>A (p.Val162Ile)
NM_002951.5(RPN2):c.504A>G (p.Ala168=)
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.693T>C (p.Asp231=) rs1600785623
NM_002951.5(RPN2):c.715G>A (p.Ala239Thr)
NM_002951.5(RPN2):c.773C>T (p.Ala258Val)
NM_002951.5(RPN2):c.78T>A (p.Thr26=)
NM_002951.5(RPN2):c.797G>T (p.Arg266Leu)
NM_002951.5(RPN2):c.804C>T (p.His268=)
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.886C>T (p.Leu296=)
NM_002951.5(RPN2):c.913G>C (p.Val305Leu) rs2146607830
NM_002951.5(RPN2):c.981T>A (p.Pro327=) rs2146608181

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