List of variants in gene RYR1 reported as uncertain significance by Breakthrough Genomics, Breakthrough Genomics

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)	rs151325948	0.00061
NM_000540.3(RYR1):c.7613C>T (p.Thr2538Met)	rs575446156	0.00003
NM_000540.3(RYR1):c.10170C>T (p.Gly3390=)	rs369239179	0.00001
NM_000540.3(RYR1):c.10459G>A (p.Gly3487Ser)	rs371645169	0.00001
NM_000540.3(RYR1):c.1882C>T (p.Arg628Cys)	rs757284447	0.00001
NM_000540.3(RYR1):c.7172C>T (p.Ala2391Val)	rs373264653	0.00001
NM_000540.3(RYR1):c.9743G>A (p.Arg3248Gln)	rs553187437	0.00001
NM_000540.3(RYR1):c.10662C>G (p.His3554Gln)	rs758686728
NM_000540.3(RYR1):c.12358G>A (p.Glu4120Lys)
NM_000540.3(RYR1):c.1810T>C (p.Ser604Pro)	rs901536375

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