List of variants in gene DAG1 reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2P

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn)	rs117209107	0.00072
NM_004393.6(DAG1):c.220G>A (p.Val74Ile)	rs189360006	0.00004
NC_000003.11:g.(?_49568210)_(49570632_?)del
NM_004393.6(DAG1):c.235C>T (p.Arg79Ter)	rs1334656238
NM_004393.6(DAG1):c.285+1G>A	rs2050744878
NM_004393.6(DAG1):c.330G>A (p.Trp110Ter)	rs2051320206
NM_004393.6(DAG1):c.41C>A (p.Ser14Ter)	rs2131107
NM_004393.6(DAG1):c.440del (p.Gln147fs)	rs1553652503
NM_004393.6(DAG1):c.575C>T (p.Thr192Met)	rs193922955

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