ClinVar Miner

List of variants reported as uncertain significance for RIDDLE syndrome

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_152617.4(RNF168):c.529G>A (p.Glu177Lys) rs112513009 0.00080
NM_152617.4(RNF168):c.596T>C (p.Leu199Ser) rs147030576 0.00028
NM_152617.4(RNF168):c.1019C>T (p.Ser340Leu) rs187146687 0.00017
NM_152617.4(RNF168):c.237A>G (p.Ile79Met) rs148808853 0.00001
NM_152617.4(RNF168):c.1591_1594dup (p.Asn532delinsSerTer) rs751867784
NM_152617.4(RNF168):c.496A>G (p.Arg166Gly) rs760613076

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