ClinVar Miner

List of variants in gene DPM2 reported as benign for congenital muscular dystrophy

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003863.4(DPM2):c.213T>C (p.Tyr71=) rs6781 0.80380
NM_003863.3(DPM2):c.-628A>G rs3758327 0.79360
NM_003863.4(DPM2):c.227C>G (p.Thr76Ser) rs7997 0.79357
NM_003863.4(DPM2):c.183G>A (p.Leu61=) rs11552794 0.01027
NM_003863.4(DPM2):c.177C>T (p.Leu59=) rs35334863 0.00922
NM_003863.4(DPM2):c.3+12A>G rs2274425 0.00262

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