List of variants in gene RYR1 reported as pathogenic by Eurofins NTD LLC (GA)

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	rs200563280	0.00013
NM_000540.3(RYR1):c.10348-6C>G	rs193922837	0.00010
NM_000540.3(RYR1):c.6274+1G>A	rs1226228092	0.00004
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)	rs121918594	0.00001
NM_000540.3(RYR1):c.12315_12328del (p.Glu4106fs)	rs886042171
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)	rs772494345
NM_000540.3(RYR1):c.12612G>A (p.Trp4204Ter)	rs794727982
NM_000540.3(RYR1):c.12625-1G>T	rs794727984
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)	rs193922772
NM_000540.3(RYR1):c.2505del (p.Pro836fs)	rs797045932
NM_000540.3(RYR1):c.3982_3986del (p.Pro1327_Asp1328insTer)	rs1555775774
NM_000540.3(RYR1):c.4076del (p.Gly1359fs)	rs794727460
NM_000540.3(RYR1):c.7463_7475del (p.Pro2488fs)	rs794727683
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG	rs1555786205

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