List of variants in gene RYR2 reported as uncertain significance for Primary familial hypertrophic cardiomyopathy

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)	rs200525962	0.00048
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser)	rs201081663	0.00030
NM_001035.3(RYR2):c.2630A>C (p.His877Pro)	rs561321743	0.00011
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)	rs201675951	0.00004
NM_001035.3(RYR2):c.5006A>G (p.Asn1669Ser)	rs727503400	0.00002
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val)	rs869025513	0.00002
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe)	rs377712921	0.00001
NM_001035.3(RYR2):c.14172G>C (p.Trp4724Cys)	rs780752317	0.00001
NM_001035.3(RYR2):c.12379A>C (p.Asn4127His)	rs730880197
NM_001035.3(RYR2):c.13276GAA[2] (p.Glu4428del)	rs869025516
NM_001035.3(RYR2):c.13285A>T (p.Lys4429Ter)	rs869025515
NM_001035.3(RYR2):c.3049A>G (p.Thr1017Ala)	rs730880189
NM_001035.3(RYR2):c.3080G>A (p.Arg1027Lys)	rs730880190
NM_001035.3(RYR2):c.5204G>A (p.Ser1735Asn)	rs869025510
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln)	rs869025511
NM_001035.3(RYR2):c.6203G>T (p.Arg2068Leu)	rs869025512
NM_001035.3(RYR2):c.6793-4G>T	rs568936247

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