ClinVar Miner

List of variants studied for DPM3-congenital disorder of glycosylation

Included ClinVar conditions (2):
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_153741.2(DPM3):c.55G>T (p.Val19Leu) rs141877691 0.00032
NM_153741.2(DPM3):c.112C>T (p.Leu38=) rs368529799 0.00028
NM_153741.2(DPM3):c.249C>A (p.Ala83=) rs193215070 0.00016
NM_153741.2(DPM3):c.248C>T (p.Ala83Val) rs777586354 0.00006
NM_153741.2(DPM3):c.127G>A (p.Ala43Thr) rs778766264 0.00004
NM_153741.2(DPM3):c.179G>T (p.Arg60Leu) rs773427971 0.00002
NM_153741.2(DPM3):c.129_130del (p.Tyr44fs) rs1557794919 0.00001
NM_153741.2(DPM3):c.178C>T (p.Arg60Cys) rs766751249 0.00001
NM_153741.2(DPM3):c.196G>T (p.Asp66Tyr) rs1204451277 0.00001
NM_153741.2(DPM3):c.208G>A (p.Ala70Thr) rs776662775 0.00001
NM_153741.2(DPM3):c.218A>C (p.Glu73Ala) rs745807155 0.00001
NM_153741.2(DPM3):c.266G>A (p.Gly89Glu) rs758821383 0.00001
NM_153741.2(DPM3):c.41T>C (p.Leu14Pro) rs778481307 0.00001
NM_153741.2(DPM3):c.60C>T (p.Ala20=) rs371295542 0.00001
NC_000001.10:g.(?_155112438)_(155112716_?)dup
NC_000001.11:g.(?_155139952)_(155140340_?)dup
NM_153741.2(DPM3):c.104A>G (p.Gln35Arg)
NM_153741.2(DPM3):c.111C>T (p.Val37=) rs2102491788
NM_153741.2(DPM3):c.11T>C (p.Leu4Ser)
NM_153741.2(DPM3):c.124C>G (p.Pro42Ala) rs745692004
NM_153741.2(DPM3):c.176A>C (p.Tyr59Ser) rs1055439022
NM_153741.2(DPM3):c.179del (p.Arg60fs)
NM_153741.2(DPM3):c.184G>C (p.Ala62Pro) rs2102491677
NM_153741.2(DPM3):c.185C>T (p.Ala62Val) rs1553190791
NM_153741.2(DPM3):c.193C>T (p.His65Tyr)
NM_153741.2(DPM3):c.19T>C (p.Trp7Arg) rs1664705696
NM_153741.2(DPM3):c.205del (p.Asp69fs)
NM_153741.2(DPM3):c.215G>A (p.Arg72His)
NM_153741.2(DPM3):c.21G>A (p.Trp7Ter) rs1444066075
NM_153741.2(DPM3):c.21G>C (p.Trp7Cys)
NM_153741.2(DPM3):c.229C>T (p.Gln77Ter) rs2102491600
NM_153741.2(DPM3):c.244C>T (p.Arg82Ter) rs749000879
NM_153741.2(DPM3):c.254T>A (p.Leu85Ter) rs121908155
NM_153741.2(DPM3):c.254T>C (p.Leu85Ser) rs121908155
NM_153741.2(DPM3):c.257C>A (p.Ala86Asp) rs752119871
NM_153741.2(DPM3):c.27G>A (p.Trp9Ter)
NM_153741.2(DPM3):c.28G>C (p.Gly10Arg) rs367584459
NM_153741.2(DPM3):c.29G>A (p.Gly10Glu) rs2102491894
NM_153741.2(DPM3):c.39C>T (p.Ile13=)
NM_153741.2(DPM3):c.42G>A (p.Leu14=)
NM_153741.2(DPM3):c.44G>T (p.Gly15Val) rs372215837
NM_153741.2(DPM3):c.48C>T (p.Ser16=) rs753265590
NM_153741.2(DPM3):c.59C>T (p.Ala20Val)
NM_153741.2(DPM3):c.5del (p.Thr2fs)
NM_153741.2(DPM3):c.6G>A (p.Thr2=)
NM_153741.2(DPM3):c.81C>T (p.Gly27=)
NM_153741.2(DPM3):c.95T>C (p.Leu32Ser) rs959102245

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