ClinVar Miner

List of variants in gene RYR1 reported as not provided for congenital myopathy

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_000540.3(RYR1):c.6891+3G>T rs373333757 0.00006
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.3043C>T (p.Arg1015Cys) rs139006437 0.00004
NM_000540.3(RYR1):c.13069C>A (p.Leu4357Met) rs1236057233 0.00003
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179 0.00002
NM_000540.3(RYR1):c.5962G>A (p.Ala1988Thr) rs763360938 0.00002
NM_000540.3(RYR1):c.3145G>A (p.Gly1049Ser) rs990842315 0.00001
NM_000540.3(RYR1):c.3200G>A (p.Arg1067His) rs377381782 0.00001
NM_000540.3(RYR1):c.3719G>T (p.Gly1240Val) rs1374486975 0.00001
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr) rs118192117
NM_000540.3(RYR1):c.13480G>T (p.Glu4494Ter) rs143849895
NM_000540.3(RYR1):c.5333C>A (p.Ser1778Ter) rs367543055
NM_000540.3(RYR1):c.6104A>T (p.His2035Leu) rs367543056
NM_000540.3(RYR1):c.738T>G (p.Tyr246Ter) rs367543054
NM_000540.3(RYR1):c.9000+1G>T rs111364670
NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys) rs367543057

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