ClinVar Miner

List of variants in gene DEPDC5 reported by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001242896.3(DEPDC5):c.3358A>G (p.Met1120Val) rs61731662 0.02356
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_001242896.3(DEPDC5):c.814G>A (p.Val272Ile) rs187334123 0.00167
NM_001242896.3(DEPDC5):c.3567A>G (p.Thr1189=) rs142197878 0.00063
NM_001242896.3(DEPDC5):c.363+6_363+7del rs748242785 0.00027
NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe) rs578244490 0.00003
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 0.00001
NM_001242896.3(DEPDC5):c.2055C>A (p.Phe685Leu) rs61731667
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001242896.3(DEPDC5):c.3696+10C>A rs755463750

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