ClinVar Miner

List of variants reported as pathogenic for Galloway-Mowat syndrome by OMIM

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) rs140076803 0.00036
NM_017807.4(OSGEP):c.530G>C (p.Gly177Ala) rs778931753 0.00005
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys) rs374322839 0.00005
NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln) rs773173317 0.00003
NM_017807.4(OSGEP):c.974G>A (p.Arg325Gln) rs753237335 0.00003
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter) rs797044992 0.00002
NM_016058.5(TPRKB):c.446A>G (p.Tyr149Cys) rs1233885358 0.00001
NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr) rs1443735811 0.00001
NM_018669.6(WDR4):c.509G>A (p.Arg170Gln) rs1292041526 0.00001
NM_006014.5(LAGE3):c.188+1G>A rs1557211410
NM_006014.5(LAGE3):c.316G>T (p.Val106Phe) rs1557211306
NM_006014.5(LAGE3):c.410T>C (p.Phe137Ser) rs1557211209
NM_016058.5(TPRKB):c.407T>C (p.Leu136Pro) rs1553433412
NM_017807.4(OSGEP):c.40A>T (p.Ile14Phe) rs1555331969
NM_017807.4(OSGEP):c.839G>A (p.Arg280His) rs144732839
NM_018230.3(NUP133):c.3335-11T>A rs1433513056
NM_018669.6(WDR4):c.454-2A>C rs779449710
NM_018669.6(WDR4):c.491A>C (p.Asp164Ala) rs1555976610
NM_018669.6(WDR4):c.911_927dup (p.Gln310fs) rs1569314907
NM_018669.6(WDR4):c.940dup (p.Leu314fs) rs776760122
NM_020401.4(NUP107):c.1325G>A (p.Cys442Tyr) rs745342141
NM_020401.4(NUP107):c.303G>A (p.Met101Ile) rs730882216
NM_024640.4(YRDC):c.251C>T (p.Ala84Val) rs1646752498
NM_024640.4(YRDC):c.662T>C (p.Ile221Thr) rs2148390396
NM_024640.4(YRDC):c.721_724del (p.Val241fs) rs747256043
NM_024640.4(YRDC):c.791TCC[1] (p.Leu265del) rs1646718218
NM_032490.5(GON7):c.19dup (p.Tyr7fs) rs2140095097
NM_032490.5(GON7):c.21C>A (p.Tyr7Ter) rs1218573239
NM_032856.5(WDR73):c.1039C>T (p.His347Tyr) rs754099015
NM_032856.5(WDR73):c.129T>G (p.Tyr43Ter) rs727502863
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.400_401del (p.Trp136fs) rs767086146
NM_032856.5(WDR73):c.68T>A (p.Leu23Gln) rs797044993
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_032856.5(WDR73):c.888del (p.Phe296fs) rs869320712
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter) rs797044994
NM_033550.4(TP53RK):c.125G>A (p.Gly42Asp) rs773814837
NM_033550.4(TP53RK):c.179del (p.Lys60fs) rs1431526147
NM_033550.4(TP53RK):c.242C>G (p.Thr81Arg) rs1432218739
NM_033550.4(TP53RK):c.728G>T (p.Arg243Leu) rs776588426

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