ClinVar Miner

List of variants in gene CTNNB1 studied for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=) rs4135386 0.00390
NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=) rs74692094 0.00041
NM_001904.4(CTNNB1):c.2128C>T (p.Arg710Cys) rs748653573 0.00002
NM_001904.4(CTNNB1):c.1139A>T (p.Asn380Ile) rs1553631770
NM_001904.4(CTNNB1):c.1829_1832del (p.Ile610fs) rs2078435023
NM_001904.4(CTNNB1):c.2140C>T (p.Pro714Ser)
NM_001904.4(CTNNB1):c.2142_2157dup (p.His720Ter) rs1057519380
NM_001904.4(CTNNB1):c.2181T>G (p.Asp727Glu)

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