ClinVar Miner

List of variants reported as likely pathogenic for Galloway-Mowat syndrome

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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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.838C>T (p.Arg280Cys) rs374322839 0.00005
NM_017807.4(OSGEP):c.319G>A (p.Val107Met) rs140583554 0.00003
NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys) rs553547069 0.00002
NM_017807.4(OSGEP):c.157A>T (p.Ile53Phe) rs780944919 0.00001
NM_017807.4(OSGEP):c.556C>T (p.Arg186Ter) rs140696201 0.00001
NM_032856.5(WDR73):c.626G>A (p.Trp209Ter) rs1896432430 0.00001
NM_017807.4(OSGEP):c.118T>C (p.Phe40Leu)
NM_017807.4(OSGEP):c.365G>T (p.Gly122Val) rs1166790792
NM_017807.4(OSGEP):c.560G>T (p.Gly187Val) rs1417690595
NM_017807.4(OSGEP):c.695C>A (p.Ser232Tyr) rs2139289899
NM_017807.4(OSGEP):c.81C>G (p.Asn27Lys) rs1881216647
NM_017807.4(OSGEP):c.839G>T (p.Arg280Leu) rs144732839
NM_018230.3(NUP133):c.2992dup (p.Gln998fs) rs1660478193
NM_018669.6(WDR4):c.454-2A>C rs779449710
NM_018669.6(WDR4):c.509_510delinsTT (p.Arg170Leu)
NM_032856.5(WDR73):c.1096_1097del (p.Leu366fs) rs768820873
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.293T>C (p.Leu98Pro) rs863223396
NM_032856.5(WDR73):c.41+1G>C
NM_032856.5(WDR73):c.525_565dup (p.Asp189delinsValThrValArgSerTer) rs2141837067
NM_032856.5(WDR73):c.6_9del (p.Asp2fs)
NM_032856.5(WDR73):c.710dup (p.Gly238fs) rs1282630153
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_032856.5(WDR73):c.767G>A (p.Arg256Gln) rs866551482
NM_032856.5(WDR73):c.884G>A (p.Gly295Asp) rs1596048227
NM_033550.4(TP53RK):c.193A>C (p.Lys65Gln) rs1568972559
NM_033550.4(TP53RK):c.309dup (p.Val104fs) rs2122963096

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