List of variants in gene RNF168 studied for RIDDLE syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 22

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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.1132T>C (p.Cys378Arg)	rs149004801	0.00401
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.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.391C>T (p.Arg131Ter)	rs201915239	0.00001
NM_152617.4(RNF168):c.493C>T (p.Arg165Ter)	rs148275050	0.00001
NM_152617.4(RNF168):c.1323_1326del (p.Gln442fs)	rs1047608955
NM_152617.4(RNF168):c.1591_1594dup (p.Asn532delinsSerTer)	rs751867784
NM_152617.4(RNF168):c.378+26del	rs62798260
NM_152617.4(RNF168):c.397dup (p.Ala133fs)	rs1577516447
NM_152617.4(RNF168):c.496A>G (p.Arg166Gly)	rs760613076
NM_152617.4(RNF168):c.559-1_560del
NM_152617.4(RNF168):c.659_662del (p.Arg220fs)	rs755314562

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