ClinVar Miner

List of variants studied for Galloway-Mowat syndrome by Baylor Genetics

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_033550.4(TP53RK):c.337A>G (p.Met113Val) rs45570735 0.00022
NM_033550.4(TP53RK):c.544A>G (p.Ile182Val) rs200921554 0.00006
NM_017807.4(OSGEP):c.973C>T (p.Arg325Trp) rs761839638 0.00003
NM_032856.5(WDR73):c.626G>A (p.Trp209Ter) rs1896432430 0.00001
NM_017807.4(OSGEP):c.317G>T (p.Gly106Val) rs1881115384
NM_017807.4(OSGEP):c.841G>A (p.Gly281Arg) rs1880982246
NM_032856.5(WDR73):c.1132C>T (p.Arg378Cys) rs376622127
NM_032856.5(WDR73):c.627G>C (p.Trp209Cys)
NM_032856.5(WDR73):c.928G>T (p.Gly310Ter) rs201608269
NM_032856.5(WDR73):c.99TGA[1] (p.Asp35del) rs750338466
NM_033550.4(TP53RK):c.598C>G (p.Leu200Val) rs2063182741

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