List of variants in gene combination CTNNB1, LOC126806659 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001904.4(CTNNB1):c.1301dup (p.Asn434fs)	rs2470829028
NM_001904.4(CTNNB1):c.1354_1355delinsG (p.Leu452fs)	rs1553631845
NM_001904.4(CTNNB1):c.1354_1357del (p.Leu452fs)	rs1575329479
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)	rs1553631860
NM_001904.4(CTNNB1):c.1494dup (p.His499fs)	rs1553631896
NM_001904.4(CTNNB1):c.1512G>A (p.Trp504Ter)
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)	rs397514554
NM_001904.4(CTNNB1):c.1580T>A (p.Leu527Ter)	rs1057520730
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter)	rs886039332
NM_001904.4(CTNNB1):c.1683+5G>C	rs1064796646

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