List of variants in gene DPM1 reported as uncertain significance for congenital disorder of glycosylation type I

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_003859.3(DPM1):c.385C>A (p.Pro129Thr)	rs752831768	0.00022
NM_003859.3(DPM1):c.261T>A (p.Ile87=)	rs774440510	0.00007
NM_003859.3(DPM1):c.286T>C (p.Leu96=)	rs780244460	0.00006
NM_003859.3(DPM1):c.275G>A (p.Arg92Gln)	rs1324570980	0.00003
NM_003859.3(DPM1):c.168C>G (p.Ile56Met)	rs562769511	0.00001
NM_003859.3(DPM1):c.202C>G (p.Pro68Ala)	rs1986767219	0.00001
NM_003859.3(DPM1):c.212C>T (p.Thr71Ile)	rs750927313	0.00001
NM_003859.3(DPM1):c.295+7C>T	rs775797102	0.00001
NM_003859.3(DPM1):c.295+8G>A	rs758553918	0.00001
NC_000020.10:g.(?_49557382)_(49558683_?)dup
NM_003859.3(DPM1):c.162-3del	rs1568774485
NM_003859.3(DPM1):c.173A>G (p.Tyr58Cys)	rs1040795570
NM_003859.3(DPM1):c.173A>T (p.Tyr58Phe)	rs1040795570
NM_003859.3(DPM1):c.178A>T (p.Ile60Phe)	rs1986768557
NM_003859.3(DPM1):c.182T>C (p.Ile61Thr)
NM_003859.3(DPM1):c.235G>C (p.Glu79Gln)	rs760351795
NM_003859.3(DPM1):c.254A>G (p.Asp85Gly)	rs1364834319
NM_003859.3(DPM1):c.259A>G (p.Ile87Val)	rs1986763754
NM_003859.3(DPM1):c.295+6T>C
NM_003859.3(DPM1):c.296-5T>C	rs1986258168
NM_003859.3(DPM1):c.326C>T (p.Ala109Val)	rs1986256273
NM_003859.3(DPM1):c.337T>A (p.Tyr113Asn)	rs2123115865
NM_003859.3(DPM1):c.339CAT[1] (p.Ile116del)
NM_003859.3(DPM1):c.355G>A (p.Ala119Thr)	rs2123115788
NM_003859.3(DPM1):c.358G>C (p.Asp120His)
NM_003859.3(DPM1):c.368A>G (p.His123Arg)
NM_003859.3(DPM1):c.382A>G (p.Ile128Val)
NM_003859.3(DPM1):c.385C>T (p.Pro129Ser)	rs752831768
NM_003859.3(DPM1):c.397A>C (p.Arg133=)

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