ClinVar Miner

List of variants studied for RIDDLE syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
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.529G>A (p.Glu177Lys) rs112513009 0.00080
NM_152617.4(RNF168):c.1019C>T (p.Ser340Leu) rs187146687 0.00017

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