ClinVar Miner

List of variants in gene QRICH1 reported as pathogenic for Ververi-Brady syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001320585.1(QRICH1):c.1606C>T (p.Arg536Ter)
NM_017730.3(QRICH1):c.1378C>T (p.Gln460Ter)
NM_017730.3(QRICH1):c.138_139delGCinsTT (p.Gln46_Gln47delinsHisTer) rs1553747119
NM_017730.3(QRICH1):c.1953dup (p.Arg652Alafs) rs1553738605
NM_017730.3(QRICH1):c.1954C>T (p.Arg652Ter) rs1236702036

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