List of variants in gene RYR2 reported as likely pathogenic for Cardiovascular phenotype

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp)	rs374306538
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val)	rs730880196
NM_001035.3(RYR2):c.14251A>C (p.Lys4751Gln)	rs794728802
NM_001035.3(RYR2):c.14861C>G (p.Ala4954Gly)
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)	rs794728811
NM_001035.3(RYR2):c.230C>T (p.Ala77Val)	rs1060500142
NM_001035.3(RYR2):c.505C>G (p.Arg169Gly)
NM_001035.3(RYR2):c.506G>T (p.Arg169Leu)	rs397516539
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys)	rs794728740
NM_001035.3(RYR2):c.527G>T (p.Arg176Leu)	rs794728708
NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr)	rs1372052481
NM_001035.3(RYR2):c.7024G>A (p.Gly2342Arg)	rs1553263907
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr)	rs794728753
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val)	rs794728754
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His)	rs794728756

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