List of variants in gene RYR1 reported as uncertain significance by Department of Pathology and Laboratory Medicine, Sinai Health System

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.7835+5A>G	rs1469695	0.38217
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)	rs2915951	0.33482
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=)	rs2229144	0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=)	rs2960340	0.33086
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=)	rs2071089	0.32394
NM_000540.3(RYR1):c.8693-10G>C	rs2915958	0.32159
NM_000540.3(RYR1):c.7614+10C>G	rs2960323	0.23284
NM_000540.3(RYR1):c.7863C>T (p.His2621=)	rs2229142	0.16420
NM_000540.3(RYR1):c.10687-7C>T	rs2960354	0.12378
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=)	rs2229147	0.10248
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=)	rs2228071	0.06536
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)	rs143987857	0.00171
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)	rs148041292	0.00015
NM_000540.3(RYR1):c.14606A>C (p.Asp4869Ala)	rs781367427	0.00011
NM_000540.3(RYR1):c.7844G>A (p.Arg2615His)	rs145183043	0.00005
NM_000540.3(RYR1):c.9899C>T (p.Ala3300Val)	rs749718772	0.00003
NM_000540.3(RYR1):c.13142C>G (p.Ala4381Gly)	rs794727983	0.00001
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=)	rs2229145

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