List of variants in gene RYR1 reported as uncertain significance by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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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.2383C>T (p.Arg795Cys)	rs547608972	0.00026
NM_000540.3(RYR1):c.2654G>A (p.Arg885His)	rs370634440	0.00013
NM_000540.3(RYR1):c.6743G>A (p.Arg2248His)	rs140152019	0.00002
NM_000540.3(RYR1):c.844C>T (p.Arg282Trp)	rs1057518970	0.00002
NM_000540.3(RYR1):c.326G>A (p.Arg109Gln)	rs762278203	0.00001
NM_000540.3(RYR1):c.10702T>G (p.Ser3568Ala)	rs772784769
NM_000540.3(RYR1):c.11687A>T (p.Asn3896Ile)	rs1555793251
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp)	rs886039586
NM_000540.3(RYR1):c.1627T>G (p.Leu543Val)	rs946863283
NM_000540.3(RYR1):c.5503G>A (p.Glu1835Lys)	rs1600773722
NM_000540.3(RYR1):c.7114G>C (p.Gly2372Arg)	rs1600820601
NM_000540.3(RYR1):c.7927-7C>T	rs886054395
NM_000540.3(RYR1):c.9643G>A (p.Ala3215Thr)	rs745421419
NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del)	rs1438501767

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