ClinVar Miner

List of variants studied for STT3B-congenital disorder of glycosylation by Invitae

Included ClinVar conditions (1):
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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_178862.3(STT3B):c.778-17C>A rs11705765 0.05239
NM_178862.3(STT3B):c.777+7T>G rs76400963 0.01303
NM_178862.3(STT3B):c.2406C>A (p.Thr802=) rs17027884 0.01283
NM_178862.3(STT3B):c.477A>G (p.Thr159=) rs139496568 0.01086
NM_178862.3(STT3B):c.1764C>T (p.Tyr588=) rs34176522 0.00770
NM_178862.3(STT3B):c.1172+15A>G rs60153256 0.00288
NM_178862.3(STT3B):c.372T>C (p.Asn124=) rs150886803 0.00245
NM_178862.3(STT3B):c.2073+14T>C rs59520046 0.00143
NM_178862.3(STT3B):c.2322A>G (p.Ala774=) rs140420950 0.00109
NM_178862.3(STT3B):c.2401-17G>T rs370120522 0.00041
NM_178862.3(STT3B):c.136G>A (p.Gly46Ser) rs527396203 0.00026
NM_178862.3(STT3B):c.2366A>G (p.Asn789Ser) rs139208333 0.00024
NM_178862.3(STT3B):c.141C>T (p.Gly47=) rs367626371 0.00019
NM_178862.3(STT3B):c.657C>T (p.Ser219=) rs145698887 0.00016
NM_178862.3(STT3B):c.895A>G (p.Ile299Val) rs141238380 0.00014
NM_178862.3(STT3B):c.758G>C (p.Cys253Ser) rs1008042824 0.00013
NM_178862.3(STT3B):c.2175T>C (p.Phe725=) rs146718873 0.00007
NM_178862.3(STT3B):c.1398A>G (p.Pro466=) rs143950703 0.00005
NM_178862.3(STT3B):c.314+9C>T rs549989552 0.00004
NM_178862.3(STT3B):c.1335A>G (p.Leu445=) rs775157879 0.00003
NM_178862.3(STT3B):c.777+11A>G rs537758327 0.00003
NM_178862.3(STT3B):c.1071A>G (p.Val357=) rs976102255 0.00001
NM_178862.3(STT3B):c.1172+9A>C rs1401856785 0.00001
NM_178862.3(STT3B):c.1342A>G (p.Ile448Val) rs559861697 0.00001
NM_178862.3(STT3B):c.153G>C (p.Pro51=) rs1352764626 0.00001
NM_178862.3(STT3B):c.171G>A (p.Gly57=) rs1430886809 0.00001
NM_178862.3(STT3B):c.2412G>A (p.Arg804=) rs1340679932 0.00001
NM_178862.3(STT3B):c.309C>T (p.Asp103=) rs763169035 0.00001
NM_178862.3(STT3B):c.390A>G (p.Ala130=) rs755782930 0.00001
NM_178862.3(STT3B):c.490G>A (p.Val164Ile) rs1223992368 0.00001
NM_178862.3(STT3B):c.870C>G (p.Val290=) rs548334707 0.00001
NM_178862.3(STT3B):c.1014G>T (p.Gln338His)
NM_178862.3(STT3B):c.1073C>T (p.Ser358Leu)
NM_178862.3(STT3B):c.1102G>T (p.Val368Phe)
NM_178862.3(STT3B):c.1170T>C (p.Thr390=) rs753179796
NM_178862.3(STT3B):c.11C>T (p.Pro4Leu) rs1250170448
NM_178862.3(STT3B):c.1263T>G (p.Leu421=)
NM_178862.3(STT3B):c.13T>C (p.Ser5Pro)
NM_178862.3(STT3B):c.1500T>C (p.Asp500=)
NM_178862.3(STT3B):c.1533T>C (p.Tyr511=)
NM_178862.3(STT3B):c.1562C>T (p.Ala521Val)
NM_178862.3(STT3B):c.1612A>G (p.Ile538Val)
NM_178862.3(STT3B):c.1638A>G (p.Leu546=)
NM_178862.3(STT3B):c.1725T>C (p.Asp575=) rs1699478483
NM_178862.3(STT3B):c.1727+15C>T
NM_178862.3(STT3B):c.1837G>A (p.Gly613Arg)
NM_178862.3(STT3B):c.1899+15_1899+16del rs764481566
NM_178862.3(STT3B):c.1900-11A>T
NM_178862.3(STT3B):c.1900-12T>A
NM_178862.3(STT3B):c.1948A>G (p.Arg650Gly) rs755361919
NM_178862.3(STT3B):c.201G>C (p.Gly67=)
NM_178862.3(STT3B):c.2071C>T (p.Arg691Trp)
NM_178862.3(STT3B):c.2072G>A (p.Arg691Gln) rs949533229
NM_178862.3(STT3B):c.225C>T (p.Thr75=) rs564276250
NM_178862.3(STT3B):c.2349C>A (p.His783Gln)
NM_178862.3(STT3B):c.2349C>T (p.His783=)
NM_178862.3(STT3B):c.2361C>A (p.Val787=)
NM_178862.3(STT3B):c.2378A>C (p.Lys793Thr)
NM_178862.3(STT3B):c.2401-17_2401-16del
NM_178862.3(STT3B):c.2401-5dup
NM_178862.3(STT3B):c.264C>T (p.Arg88=) rs2125430322
NM_178862.3(STT3B):c.307G>T (p.Asp103Tyr) rs2125430351
NM_178862.3(STT3B):c.32A>G (p.His11Arg)
NM_178862.3(STT3B):c.33C>T (p.His11=)
NM_178862.3(STT3B):c.387A>C (p.Arg129Ser)
NM_178862.3(STT3B):c.424-5C>T rs1488969630
NM_178862.3(STT3B):c.448G>T (p.Ala150Ser)
NM_178862.3(STT3B):c.496A>G (p.Ile166Val)
NM_178862.3(STT3B):c.525A>G (p.Pro175=)
NM_178862.3(STT3B):c.598T>C (p.Leu200=)
NM_178862.3(STT3B):c.601G>A (p.Ala201Thr)
NM_178862.3(STT3B):c.765C>G (p.Ser255=) rs1698803700
NM_178862.3(STT3B):c.778-12C>A
NM_178862.3(STT3B):c.778-3T>C
NM_178862.3(STT3B):c.812A>G (p.Asn271Ser)
NM_178862.3(STT3B):c.878-15A>G rs761971315
NM_178862.3(STT3B):c.887C>G (p.Thr296Ser) rs375479861
NM_178862.3(STT3B):c.976+5G>T
NM_178862.3(STT3B):c.976+7A>T rs2125471874

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