ClinVar Miner

List of variants in gene RNF13 studied for complex neurodevelopmental disorder

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_183381.3(RNF13):c.789C>T (p.His263=) rs6768054 0.63113
NM_183381.3(RNF13):c.1045A>G (p.Thr349Ala) rs972002974 0.00001
NM_183381.3(RNF13):c.613A>G (p.Lys205Glu) rs771241791 0.00001
NM_183381.3(RNF13):c.106A>G (p.Ile36Val)
NM_183381.3(RNF13):c.262A>T (p.Asn88Tyr)
NM_183381.3(RNF13):c.881_882del (p.Asp293_Ser294insTer) rs2108622234
NM_183381.3(RNF13):c.898C>T (p.Gln300Ter) rs1435275372
NM_183381.3(RNF13):c.919G>T (p.Glu307Ter)
NM_183381.3(RNF13):c.929del (p.Pro310fs)
NM_183381.3(RNF13):c.932T>C (p.Leu311Ser) rs1559980771
NM_183381.3(RNF13):c.935T>C (p.Leu312Pro) rs1559980785
NM_183381.3(RNF13):c.950_951del (p.Ser317fs) rs2108622490

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