ClinVar Miner

List of variants reported as uncertain significance for STT3B-congenital disorder of glycosylation by Invitae

Included ClinVar conditions (1):
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_178862.3(STT3B):c.2366A>G (p.Asn789Ser) rs139208333 0.00024
NM_178862.3(STT3B):c.758G>C (p.Cys253Ser) rs1008042824 0.00013
NM_178862.3(STT3B):c.1342A>G (p.Ile448Val) rs559861697 0.00001
NM_178862.3(STT3B):c.490G>A (p.Val164Ile) rs1223992368 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.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.1562C>T (p.Ala521Val)
NM_178862.3(STT3B):c.1612A>G (p.Ile538Val)
NM_178862.3(STT3B):c.1837G>A (p.Gly613Arg)
NM_178862.3(STT3B):c.1948A>G (p.Arg650Gly) rs755361919
NM_178862.3(STT3B):c.2071C>T (p.Arg691Trp)
NM_178862.3(STT3B):c.2072G>A (p.Arg691Gln) rs949533229
NM_178862.3(STT3B):c.2349C>A (p.His783Gln)
NM_178862.3(STT3B):c.2378A>C (p.Lys793Thr)
NM_178862.3(STT3B):c.307G>T (p.Asp103Tyr) rs2125430351
NM_178862.3(STT3B):c.32A>G (p.His11Arg)
NM_178862.3(STT3B):c.387A>C (p.Arg129Ser)
NM_178862.3(STT3B):c.448G>T (p.Ala150Ser)
NM_178862.3(STT3B):c.496A>G (p.Ile166Val)
NM_178862.3(STT3B):c.601G>A (p.Ala201Thr)
NM_178862.3(STT3B):c.778-3T>C
NM_178862.3(STT3B):c.812A>G (p.Asn271Ser)
NM_178862.3(STT3B):c.887C>G (p.Thr296Ser) rs375479861
NM_178862.3(STT3B):c.976+5G>T

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