List of variants in gene RYR2 reported as uncertain significance by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.8831-9A>C	rs187977513	0.00026
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala)	rs776046135	0.00009
NM_001035.3(RYR2):c.12365_12367del (p.Ala4122del)	rs1695350400
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp)	rs794728799
NM_001035.3(RYR2):c.14482G>A (p.Gly4828Arg)	rs1402571360
NM_001035.3(RYR2):c.1709-15T>A	rs1663379209
NM_001035.3(RYR2):c.3023C>T (p.Ala1008Val)	rs1232224119
NM_001035.3(RYR2):c.9129G>T (p.Arg3043Ser)	rs1687847434

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