ClinVar Miner

List of variants studied for combined dystonia by Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000217.3(KCNA1):c.1187G>T (p.Gly396Val) rs2137673958
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr) rs1643481875
NM_006516.4(SLC2A1):c.692T>C (p.Leu231Pro) rs2124449089

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