ClinVar Miner

List of variants reported as benign for myoclonus-dystonia syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001282684.2(KCTD17):c.405C>T (p.His135=) rs710185 0.80939
NM_001282684.2(KCTD17):c.55G>A (p.Ala19Thr) rs113687833 0.11849
NM_003919.3(SGCE):c.391-3T>C rs17166384 0.08209
NM_001282684.2(KCTD17):c.897C>T (p.Pro299=) rs116956945 0.03645
NM_003919.3(SGCE):c.1253+814G>A rs183951730 0.00875
NM_001282684.2(KCTD17):c.791G>A (p.Arg264His) rs146127576 0.00432
NM_003919.3(SGCE):c.369G>C (p.Val123=) rs140913016 0.00393
NM_001282684.2(KCTD17):c.336G>A (p.Pro112=) rs35901190 0.00322
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_001282684.2(KCTD17):c.298+9G>C rs374499572 0.00035
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_001282684.2(KCTD17):c.498C>T (p.Ile166=) rs34395802 0.00006
NM_003919.3(SGCE):c.591C>T (p.Asn197=) rs372968907 0.00002
NM_003919.3(SGCE):c.463+19T>G rs759488852 0.00001
NM_001282684.2(KCTD17):c.612+12C>T
NM_001282684.2(KCTD17):c.876-5dup
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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