List of variants in gene CAV3 reported as pathogenic for congenital anomaly of cardiovascular system

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_033337.3(CAV3):c.6_7del (p.Met2fs)	rs1060502318	0.00001
NM_033337.3(CAV3):c.10_17del (p.Glu4fs)	rs778914298
NM_033337.3(CAV3):c.114+2T>C	rs116840787
NM_033337.3(CAV3):c.40G>C (p.Val14Leu)	rs121909281
NM_033337.3(CAV3):c.57C>A (p.Cys19Ter)	rs1182984115
NM_033337.3(CAV3):c.79C>G (p.Arg27Gly)	rs199476324
NM_033337.3(CAV3):c.79C>T (p.Arg27Ter)	rs199476324
NM_033337.3(CAV3):c.99C>A (p.Asn33Lys)	rs1008642
NM_033337.3(CAV3):c.99C>G (p.Asn33Lys)	rs1008642

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