ClinVar Miner

List of variants reported as benign for Galloway-Mowat syndrome

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_032856.5(WDR73):c.591A>G (p.Ser197=) rs2271432 0.87940
NM_014630.3(ZNF592):c.2238A>G (p.Gln746=) rs2241645 0.75696
NM_017807.4(OSGEP):c.236-32T>C rs2275006 0.59820
NM_017807.4(OSGEP):c.412-17T>A rs938881 0.59439
NM_018669.6(WDR4):c.213G>C (p.Lys71Asn) rs2248490 0.55249
NM_017807.4(OSGEP):c.570A>G (p.Leu190=) rs938883 0.52815
NM_017807.4(OSGEP):c.558-17C>T rs938882 0.51822
NM_018669.6(WDR4):c.796C>T (p.Pro266Ser) rs15736 0.44094
NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn) rs8182086 0.27524
NM_020401.4(NUP107):c.1998+14G>T rs7976871 0.25758
NM_018669.6(WDR4):c.1169G>A (p.Arg390Gln) rs6586250 0.24647
NM_020401.4(NUP107):c.1998+15G>T rs7976876 0.21375
NM_006014.5(LAGE3):c.*19G>C rs6567 0.20303
NM_018669.6(WDR4):c.1045+38C>T rs8133179 0.19799
NM_018669.6(WDR4):c.567-16T>C rs7278765 0.17080
NM_032856.5(WDR73):c.1001A>G (p.Asp334Gly) rs72750868 0.06616
NM_018230.3(NUP133):c.1263C>T (p.Asn421=) rs34971259 0.01665
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_006014.5(LAGE3):c.362T>C (p.Ile121Thr) rs146063259 0.00026
NM_016058.5(TPRKB):c.474T>C (p.Ile158=) rs7210
NM_017807.4(OSGEP):c.294A>G (p.Gln98=) rs2275007
NM_020401.4(NUP107):c.72G>A (p.Arg24=) rs2259588
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[1] (p.309DGTRSQ[1]) rs11267906

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