ClinVar Miner

List of variants studied for Developmental malformations-deafness-dystonia syndrome

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001101.5(ACTB):c.364-16T>C rs852423 0.50974
NM_001101.5(ACTB):c.-6-33C>T rs2908425 0.33780
NM_001101.5(ACTB):c.984+39G>A rs852424 0.33749
NM_001101.5(ACTB):c.942G>A (p.Gln314=) rs11546939 0.03304
NM_001101.5(ACTB):c.1023C>T (p.Ile341=) rs58704474 0.01128
NM_001101.5(ACTB):c.363+16C>T rs73332405 0.01128
NM_001101.5(ACTB):c.426G>T (p.Leu142=) rs79074016 0.00353
NM_001101.5(ACTB):c.-6-4G>T rs13447394 0.00334
NM_001101.5(ACTB):c.951C>T (p.Ile317=) rs13447408 0.00323
NM_001101.5(ACTB):c.985-6C>T rs182943508 0.00251
NM_001101.5(ACTB):c.168C>T (p.Asp56=) rs13447398 0.00144
NM_001101.5(ACTB):c.420A>G (p.Leu140=) rs13447405 0.00136
NM_001101.5(ACTB):c.687G>A (p.Thr229=) rs138499594 0.00083
NM_001101.5(ACTB):c.762G>C (p.Arg254=) rs145818896 0.00075
NM_001101.5(ACTB):c.1107C>T (p.Ile369=) rs71531321 0.00065
NM_001101.5(ACTB):c.984+15T>C rs372551192 0.00039
NM_001101.5(ACTB):c.124-7T>A rs199651295 0.00029
NM_001101.5(ACTB):c.822C>A (p.Ile274=) rs377390140 0.00029
NM_001101.5(ACTB):c.1044G>A (p.Ser348=) rs13447409 0.00021
NM_001101.5(ACTB):c.124-4C>T rs13447397 0.00018
NM_001101.5(ACTB):c.453C>T (p.Ile151=) rs150837984 0.00014
NM_001101.5(ACTB):c.1017G>C (p.Val339=) rs201416978 0.00004
NM_001101.5(ACTB):c.642G>A (p.Glu214=) rs769411154 0.00003
NM_001101.5(ACTB):c.96C>T (p.Pro32=) rs755754152 0.00003
NM_001101.5(ACTB):c.1077_1078delinsTT (p.Lys359_Gln360delinsAsnTer) rs2533845857
NM_001101.5(ACTB):c.257G>A (p.Trp86Ter) rs1784831364
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001101.5(ACTB):c.609G>C (p.Thr203=) rs148292298

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