ClinVar Miner

List of variants studied for adolescence-adult electroclinical syndrome by OMIM

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.545G>A (p.Arg182His) rs3804505 0.05453
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn) rs137852777 0.00005
NM_018100.4(EFHC1):c.757G>T (p.Asp253Tyr) rs137852778 0.00002
NM_018100.3(EFHC1):c.[229C>A;662G>A]
NM_018100.4(EFHC1):c.883C>T (p.Gln295Ter) rs137852781

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