ClinVar Miner

List of variants in gene DPM2 studied for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_003863.3(DPM2):c.107G>A (p.Ser36Asn)
NM_003863.3(DPM2):c.145T>A (p.Tyr49Asn) rs755055369
NM_003863.3(DPM2):c.146A>G (p.Tyr49Cys)
NM_003863.3(DPM2):c.154G>A (p.Ala52Thr) rs147263320
NM_003863.3(DPM2):c.16G>A (p.Asp6Asn) rs1564141716
NM_003863.3(DPM2):c.177C>T (p.Leu59=) rs35334863
NM_003863.3(DPM2):c.183G>A (p.Leu61=) rs11552794
NM_003863.3(DPM2):c.208T>G (p.Ser70Ala) rs759597928
NM_003863.3(DPM2):c.212_213delinsGC (p.Tyr71Cys)
NM_003863.3(DPM2):c.213T>C (p.Tyr71=) rs6781
NM_003863.3(DPM2):c.227C>G (p.Thr76Ser) rs7997
NM_003863.3(DPM2):c.37del (p.Leu13fs) rs1349389319
NM_003863.3(DPM2):c.4-1G>C rs797044467
NM_003863.3(DPM2):c.64A>G (p.Thr22Ala) rs7042788
NM_003863.3(DPM2):c.68A>G (p.Tyr23Cys) rs397514503

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