ClinVar Miner

List of variants reported as benign for RIDDLE syndrome

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_152617.4(RNF168):c.559-46A>G rs7646174 0.58484
NM_152617.4(RNF168):c.1202C>A (p.Pro401Gln) rs3796129 0.49737
NM_152617.4(RNF168):c.972G>A (p.Glu324=) rs35405598 0.02354
NM_152617.4(RNF168):c.307G>A (p.Asp103Asn) rs149773824 0.01095
NM_152617.4(RNF168):c.1481C>T (p.Pro494Leu) rs35132476 0.00738
NM_152617.4(RNF168):c.1284A>G (p.Lys428=) rs78211871 0.00550
NM_152617.4(RNF168):c.1237G>A (p.Glu413Lys) rs6790173 0.00395
NM_152617.4(RNF168):c.508G>A (p.Glu170Lys) rs114025031 0.00235
NM_152617.4(RNF168):c.378+26del rs62798260

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