ClinVar Miner

List of variants studied for Ververi-Brady syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
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.1812_1813del (p.Glu605fs) rs2093252843
NM_198880.3(QRICH1):c.1953dup (p.Arg652fs) rs1553738605
NM_198880.3(QRICH1):c.1954C>T (p.Arg652Ter) rs1236702036
NM_198880.3(QRICH1):c.2207G>A (p.Ser736Asn) rs2093229974
NM_198880.3(QRICH1):c.832_833del (p.Ser278fs) rs2093408575

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