List of variants in gene combination CAV3, OXTR reported as uncertain significance for Cardiomyopathy

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_033337.3(CAV3):c.244G>A (p.Val82Ile)	rs112626848	0.00007
NM_033337.3(CAV3):c.384C>T (p.Phe128=)	rs773934743	0.00004
NM_033337.3(CAV3):c.401C>T (p.Ala134Val)	rs201267913	0.00003
NM_033337.3(CAV3):c.442C>T (p.Arg148Trp)	rs730880422	0.00002
NM_033337.3(CAV3):c.169G>A (p.Val57Met)	rs116840795	0.00001
NM_033337.3(CAV3):c.221G>A (p.Arg74His)	rs201893621	0.00001
NM_033337.3(CAV3):c.337G>A (p.Glu113Lys)	rs921802744	0.00001
NM_033337.3(CAV3):c.115-1G>A	rs1559654217
NM_033337.3(CAV3):c.391C>A (p.Pro131Thr)	rs1024814421
NM_033337.3(CAV3):c.402G>A (p.Ala134=)	rs559206877
NM_033337.3(CAV3):c.402G>C (p.Ala134=)	rs559206877
NM_033337.3(CAV3):c.413A>G (p.Gln138Arg)	rs1559655357

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