ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_000540.3(RYR1):c.2415T>C (p.Pro805=) rs141881325 0.00319
NM_000540.3(RYR1):c.11360-9T>A rs150187840 0.00260
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser) rs147336515 0.00202
NM_000540.3(RYR1):c.297G>A (p.Thr99=) rs144241486 0.00186
NM_000540.3(RYR1):c.9555-9G>A rs149569999 0.00180
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_000540.3(RYR1):c.2622G>A (p.Ala874=) rs149381996 0.00155
NM_000540.3(RYR1):c.2919C>T (p.His973=) rs139363830 0.00140
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_000540.3(RYR1):c.2682+7G>A rs201498416 0.00058
NM_000540.3(RYR1):c.14061G>A (p.Leu4687=) rs201629205 0.00017
NM_000540.3(RYR1):c.12847G>A (p.Glu4283Lys) rs794728692 0.00007
NM_000540.3(RYR1):c.5665GAG[2] (p.Glu1891del) rs559371263

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