List of variants in gene DPM3 reported as pathogenic for skeletal muscle disorder

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_153741.2(DPM3):c.129_130del (p.Tyr44fs)	rs1557794919	0.00001
NM_153741.2(DPM3):c.41T>C (p.Leu14Pro)	rs778481307	0.00001
NC_000001.10:g.(?_155112418)_(155112826_?)del
NM_153741.2(DPM3):c.124C>G (p.Pro42Ala)	rs745692004
NM_153741.2(DPM3):c.179del (p.Arg60fs)
NM_153741.2(DPM3):c.205del (p.Asp69fs)
NM_153741.2(DPM3):c.21G>A (p.Trp7Ter)	rs1444066075
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.27G>A (p.Trp9Ter)
NM_153741.2(DPM3):c.5del (p.Thr2fs)

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