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: 7
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NM_198880.3(QRICH1):c.1143_1144CT[2] (p.Leu383fs) rs1376687924
NM_198880.3(QRICH1):c.1378C>T (p.Gln460Ter) rs1559931177
NM_198880.3(QRICH1):c.138_139delinsTT (p.Gln46_Gln47delinsHisTer) rs1553747119
NM_198880.3(QRICH1):c.1606C>T (p.Arg536Ter) rs1559930732
NM_198880.3(QRICH1):c.1953dup (p.Arg652fs) rs1553738605
NM_198880.3(QRICH1):c.1954C>T (p.Arg652Ter) rs1236702036
NM_198880.3(QRICH1):c.64dup (p.Val22fs) rs1575373920

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