ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance by Athena Diagnostics

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val) rs146361173 0.00061
NM_000540.3(RYR1):c.305A>G (p.Tyr102Cys) rs760138384 0.00015
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His) rs141942845 0.00014
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250 0.00008
NM_000540.3(RYR1):c.8904C>A (p.Asp2968Glu) rs759530203 0.00007
NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) rs766887342 0.00006
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met) rs760235443 0.00006
NM_000540.3(RYR1):c.12242C>T (p.Thr4081Met) rs373406011 0.00005
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys) rs752192756 0.00004
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu) rs149737658 0.00004
NM_000540.3(RYR1):c.4963C>T (p.Arg1655Cys) rs371777056 0.00004
NM_000540.3(RYR1):c.2390G>A (p.Gly797Asp) rs896357123 0.00003
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser) rs201834803 0.00003
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.46-10G>A rs1972632890 0.00001
NM_000540.3(RYR1):c.6311G>A (p.Arg2104His) rs745319881 0.00001
NM_000540.3(RYR1):c.7072A>C (p.Ile2358Leu) rs759306349 0.00001
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp) rs1157851269 0.00001
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu) rs762652935 0.00001
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399 0.00001
NM_000540.3(RYR1):c.9615C>G (p.Phe3205Leu) rs1223136232 0.00001
NM_000540.3(RYR1):c.10619A>G (p.Tyr3540Cys) rs752477271
NM_000540.3(RYR1):c.12188T>C (p.Met4063Thr) rs777285788
NM_000540.3(RYR1):c.12599A>G (p.Asn4200Ser) rs199660276
NM_000540.3(RYR1):c.12625G>C (p.Val4209Leu)
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.13985A>G (p.Tyr4662Cys)
NM_000540.3(RYR1):c.14749T>C (p.Phe4917Leu) rs1599674419
NM_000540.3(RYR1):c.14802G>C (p.Gln4934His) rs1555805334
NM_000540.3(RYR1):c.15036G>T (p.Trp5012Cys)
NM_000540.3(RYR1):c.1874T>C (p.Leu625Pro) rs1555769513
NM_000540.3(RYR1):c.1983G>T (p.Trp661Cys) rs1305971341
NM_000540.3(RYR1):c.2049G>T (p.Val683=) rs1967521130
NM_000540.3(RYR1):c.2087G>T (p.Gly696Val)
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.3(RYR1):c.455C>A (p.Ala152Asp) rs1555763641
NM_000540.3(RYR1):c.6707T>G (p.Leu2236Arg) rs1969830618
NM_000540.3(RYR1):c.7763G>A (p.Arg2588His)
NM_000540.3(RYR1):c.7936A>G (p.Asn2646Asp) rs746174410
NM_000540.3(RYR1):c.9250G>A (p.Gly3084Ser)

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