ClinVar Miner

List of variants studied for electroclinical syndrome by DASA

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001271.4(CHD2):c.4921C>T (p.Gln1641Ter) rs864309548
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala) rs587777862
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_004408.4(DNM1):c.443A>G (p.Gln148Arg) rs1554772959

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