ClinVar Miner

List of variants studied for Galloway-Mowat syndrome 6

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_018669.6(WDR4):c.213G>C (p.Lys71Asn) rs2248490 0.55249
NM_018669.6(WDR4):c.796C>T (p.Pro266Ser) rs15736 0.44094
NM_018669.6(WDR4):c.1169G>A (p.Arg390Gln) rs6586250 0.24647
NM_018669.6(WDR4):c.1045+38C>T rs8133179 0.19799
NM_018669.6(WDR4):c.567-16T>C rs7278765 0.17080
NM_018669.6(WDR4):c.509G>A (p.Arg170Gln) rs1292041526 0.00001
NM_018669.6(WDR4):c.2T>C (p.Met1Thr)
NM_018669.6(WDR4):c.454-2A>C rs779449710
NM_018669.6(WDR4):c.491A>C (p.Asp164Ala) rs1555976610
NM_018669.6(WDR4):c.509G>T (p.Arg170Leu) rs1292041526
NM_018669.6(WDR4):c.509_510delinsTT (p.Arg170Leu)
NM_018669.6(WDR4):c.727-331G>T
NM_018669.6(WDR4):c.911_927dup (p.Gln310fs) rs1569314907
NM_018669.6(WDR4):c.940dup (p.Leu314fs) rs776760122

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