ClinVar Miner

List of variants reported as uncertain significance for Ververi-Brady syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_198880.3(QRICH1):c.2214C>G (p.Ile738Met) rs1229242051 0.00001
NM_198880.3(QRICH1):c.1245A>G (p.Ile415Met)
NM_198880.3(QRICH1):c.1304A>G (p.Gln435Arg) rs2106903188
NM_198880.3(QRICH1):c.1306C>G (p.Gln436Glu) rs1575347805
NM_198880.3(QRICH1):c.1711G>A (p.Asp571Asn) rs1267494571
NM_198880.3(QRICH1):c.1981C>T (p.Pro661Ser)
NM_198880.3(QRICH1):c.2216G>A (p.Trp739Ter) rs2106802170
NM_198880.3(QRICH1):c.310-2A>C rs1377134128
NM_198880.3(QRICH1):c.476C>A (p.Pro159His)
NM_198880.3(QRICH1):c.598G>A (p.Val200Met)
NM_198880.3(QRICH1):c.701G>A (p.Arg234Gln)
NM_198880.3(QRICH1):c.770C>T (p.Ser257Phe) rs2093409022
NM_198880.3(QRICH1):c.851C>T (p.Pro284Leu) rs2093408453
NM_198880.3(QRICH1):c.887G>A (p.Ser296Asn)

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