ClinVar Miner

List of variants reported as pathogenic for Ververi-Brady syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_198880.3(QRICH1):c.1147_1150del (p.Leu383fs) rs1376687924
NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs) rs1376687924
NM_198880.3(QRICH1):c.1258C>T (p.Gln420Ter) rs2106903534
NM_198880.3(QRICH1):c.1292dup (p.Pro432fs) rs2106903309
NM_198880.3(QRICH1):c.136del (p.Gln46fs) rs2106983258
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.1531C>T (p.Arg511Ter) rs746059690
NM_198880.3(QRICH1):c.1585dup (p.Cys529fs) rs2106863220
NM_198880.3(QRICH1):c.1606C>T (p.Arg536Ter) rs1559930732
NM_198880.3(QRICH1):c.1626del (p.Tyr543fs) rs2106863052
NM_198880.3(QRICH1):c.1787-2A>G rs2106814058
NM_198880.3(QRICH1):c.1812_1813del (p.Glu605fs) rs2093252843
NM_198880.3(QRICH1):c.1896-2A>G rs2106812365
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.2216G>A (p.Trp739Ter) rs2106802170
NM_198880.3(QRICH1):c.418del (p.Gln140fs) rs2106907255
NM_198880.3(QRICH1):c.46C>T (p.Arg16Ter) rs763953500
NM_198880.3(QRICH1):c.541C>T (p.Gln181Ter) rs2106906600
NM_198880.3(QRICH1):c.64dup (p.Val22fs) rs1575373920
NM_198880.3(QRICH1):c.823C>T (p.Gln275Ter) rs2106905360
NM_198880.3(QRICH1):c.832_833del (p.Ser278fs) rs2093408575
NM_198880.3(QRICH1):c.845dup (p.Leu282fs)
NM_198880.3(QRICH1):c.985del (p.His329fs) rs2106904799

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