List of variants in gene DPAGT1 reported as likely pathogenic by GeneDx

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001382.4(DPAGT1):c.1123C>T (p.His375Tyr)	rs759542218	0.00003
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys)	rs28934876	0.00002
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met)	rs745872044	0.00002
NM_001382.4(DPAGT1):c.362G>A (p.Arg121His)	rs1131691904
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs)	rs1185483085

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