ClinVar Miner

List of variants in gene DPM1 reported as likely benign for Congenital disorder of glycosylation type 1E

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_003859.3(DPM1):c.357T>C (p.Ala119=) rs371895653 0.00021
NM_003859.3(DPM1):c.261+8A>G rs369077586 0.00006
NM_003859.3(DPM1):c.286T>C (p.Leu96=) rs780244460 0.00006
NM_003859.3(DPM1):c.171C>T (p.Asn57=) rs755192460 0.00003
NM_003859.3(DPM1):c.296-10T>C rs765027931 0.00002
NM_003859.3(DPM1):c.162-17A>G rs376823531 0.00001
NM_003859.3(DPM1):c.219T>C (p.Asp73=) rs753295960 0.00001
NM_003859.3(DPM1):c.295+7C>T rs775797102 0.00001
NM_003859.3(DPM1):c.295+8G>A rs758553918 0.00001
NM_003859.3(DPM1):c.339C>T (p.Tyr113=) rs749555898 0.00001
NM_003859.3(DPM1):c.373-11T>C rs750138754 0.00001
NM_003859.3(DPM1):c.232T>C (p.Leu78=) rs1986765330
NM_003859.3(DPM1):c.262-19C>A
NM_003859.3(DPM1):c.262-19C>T
NM_003859.3(DPM1):c.262-9T>C rs759423847
NM_003859.3(DPM1):c.267A>G (p.Leu89=)
NM_003859.3(DPM1):c.273A>G (p.Pro91=) rs766462970
NM_003859.3(DPM1):c.295+8G>C rs758553918
NM_003859.3(DPM1):c.296-14A>C
NM_003859.3(DPM1):c.296-9C>A rs1986258505
NM_003859.3(DPM1):c.296-9C>G rs1986258505
NM_003859.3(DPM1):c.303A>G (p.Ala101=) rs139211110
NM_003859.3(DPM1):c.303A>T (p.Ala101=)
NM_003859.3(DPM1):c.345T>C (p.Ile115=)
NM_003859.3(DPM1):c.372+12G>A
NM_003859.3(DPM1):c.384T>C (p.Ile128=) rs1555822595
NM_003859.3(DPM1):c.398+20T>C

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