ClinVar Miner

List of variants in gene combination CASD1, SGCE reported as benign for myoclonus-dystonia syndrome

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_003919.3(SGCE):c.391-43A>C rs2272091 0.10996
NM_003919.3(SGCE):c.391-3T>C rs17166384 0.08209
NM_003919.3(SGCE):c.1253+814G>A rs183951730 0.00875
NM_003919.3(SGCE):c.*101A>G rs193172306 0.00600
NM_003919.3(SGCE):c.369G>C (p.Val123=) rs140913016 0.00393
NM_003919.3(SGCE):c.769A>C (p.Thr257Pro) rs116105264 0.00283
NM_003919.3(SGCE):c.1254-10T>C rs142854334 0.00144
NM_003919.3(SGCE):c.606A>G (p.Thr202=) rs148979783 0.00105
NM_003919.3(SGCE):c.510T>C (p.Asn170=) rs55853245 0.00036
NM_003919.3(SGCE):c.1072C>T (p.Leu358=) rs139062360 0.00023
NM_003919.3(SGCE):c.975G>A (p.Ser325=) rs145040065 0.00016
NM_003919.3(SGCE):c.391A>G (p.Ile131Val) rs370609227 0.00015
NM_003919.3(SGCE):c.1196C>T (p.Pro399Leu) rs17851923 0.00007
NM_003919.3(SGCE):c.738G>A (p.Leu246=) rs767137229 0.00004
NM_003919.3(SGCE):c.1025G>A (p.Arg342Gln) rs764696852 0.00002
NM_003919.3(SGCE):c.591C>T (p.Asn197=) rs372968907 0.00002
NM_003919.3(SGCE):c.463+19T>G rs759488852 0.00001
NM_003919.3(SGCE):c.556G>A (p.Ala186Thr) rs746585235 0.00001
NM_003919.3(SGCE):c.1253+811A>C rs10247562
NM_003919.3(SGCE):c.1254-9_1254-7del rs201696689
NM_003919.3(SGCE):c.636A>G (p.Pro212=)
NM_003919.3(SGCE):c.663-9dup rs757096943

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