ClinVar Miner

List of variants studied for dystonia 28, childhood-onset by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.1652A>G (p.Tyr551Cys) rs753071702 0.00001
NM_014727.3(KMT2B):c.2462G>T (p.Ser821Ile) rs767324610 0.00001
NM_014727.3(KMT2B):c.6170G>A (p.Arg2057His) rs374062006 0.00001
NM_014727.3(KMT2B):c.5615C>T (p.Pro1872Leu)

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