ClinVar Miner

List of variants in gene RYR1 reported by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 69
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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.94C>T (p.Leu32Phe) rs138630815 0.00125
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val) rs146361173 0.00061
NM_000540.3(RYR1):c.3505A>C (p.Met1169Leu) rs139069946 0.00051
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly) rs149984626 0.00031
NM_000540.3(RYR1):c.79G>A (p.Val27Met) rs143481004 0.00030
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val) rs370966353 0.00026
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211 0.00025
NM_000540.3(RYR1):c.2645C>T (p.Ala882Val) rs143701391 0.00021
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000540.3(RYR1):c.9634G>A (p.Glu3212Lys) rs185371036 0.00014
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000540.3(RYR1):c.2681C>T (p.Pro894Leu) rs758631999 0.00007
NM_000540.3(RYR1):c.4489G>A (p.Gly1497Arg) rs367637223 0.00007
NM_000540.3(RYR1):c.2603G>A (p.Arg868His) rs750938678 0.00006
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys) rs777049924 0.00006
NM_000540.3(RYR1):c.14602G>A (p.Glu4868Lys) rs187569997 0.00005
NM_000540.3(RYR1):c.7204C>T (p.Arg2402Trp) rs575780192 0.00004
NM_000540.3(RYR1):c.13082C>T (p.Ser4361Leu) rs1385549951 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.2995C>T (p.Arg999Cys) rs150442096 0.00003
NM_000540.3(RYR1):c.4339G>A (p.Val1447Met) rs370851779 0.00003
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg) rs761224660 0.00003
NM_000540.3(RYR1):c.8752C>G (p.Arg2918Gly) rs571701341 0.00003
NM_000540.3(RYR1):c.9457G>A (p.Gly3153Arg) rs779410371 0.00003
NM_000540.3(RYR1):c.9811G>A (p.Glu3271Lys) rs773026490 0.00003
NM_000540.3(RYR1):c.4205C>T (p.Pro1402Leu) rs766135560 0.00002
NM_000540.3(RYR1):c.625G>A (p.Glu209Lys) rs771058055 0.00002
NM_000540.3(RYR1):c.7027+4A>T rs753538619 0.00002
NM_000540.3(RYR1):c.11193+3G>A rs886054400 0.00001
NM_000540.3(RYR1):c.11224G>A (p.Gly3742Ser) rs774921643 0.00001
NM_000540.3(RYR1):c.11746A>G (p.Ile3916Val) rs766503308 0.00001
NM_000540.3(RYR1):c.13378A>G (p.Thr4460Ala) rs1381604416 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.3217A>G (p.Ile1073Val) rs781092447 0.00001
NM_000540.3(RYR1):c.4480G>C (p.Val1494Leu) rs886054387 0.00001
NM_000540.3(RYR1):c.5132A>G (p.Tyr1711Cys) rs754785770 0.00001
NM_000540.3(RYR1):c.7028-10G>A rs1005260620 0.00001
NM_000540.3(RYR1):c.9680G>A (p.Arg3227Gln) rs878984852 0.00001
NM_000540.3(RYR1):c.10626G>A (p.Leu3542=) rs1568538021
NM_000540.3(RYR1):c.12494T>G (p.Leu4165Arg) rs1555798592
NM_000540.3(RYR1):c.12667G>A (p.Glu4223Lys) rs752060440
NM_000540.3(RYR1):c.12951GCGGCGGCT[3] (p.4318RRL[3]) rs193922846
NM_000540.3(RYR1):c.13042G>A (p.Ala4348Thr) rs2145845469
NM_000540.3(RYR1):c.13244C>T (p.Ala4415Val)
NM_000540.3(RYR1):c.13244_13264del (p.Ala4415_Asp4421del) rs763413580
NM_000540.3(RYR1):c.1396A>C (p.Lys466Gln)
NM_000540.3(RYR1):c.14269C>T (p.Arg4757Cys)
NM_000540.3(RYR1):c.14412C>A (p.His4804Gln)
NM_000540.3(RYR1):c.14759C>T (p.Thr4920Ile) rs118192155
NM_000540.3(RYR1):c.2224G>A (p.Val742Met) rs1364240080
NM_000540.3(RYR1):c.4191G>T (p.Met1397Ile)
NM_000540.3(RYR1):c.4623G>A (p.Val1541=)
NM_000540.3(RYR1):c.5015T>C (p.Val1672Ala)
NM_000540.3(RYR1):c.5093A>C (p.Glu1698Ala)
NM_000540.3(RYR1):c.52G>A (p.Glu18Lys)
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del) rs371047178
NM_000540.3(RYR1):c.6272C>A (p.Pro2091His) rs1555781055
NM_000540.3(RYR1):c.7097C>G (p.Pro2366Arg) rs193922806
NM_000540.3(RYR1):c.743G>A (p.Gly248Glu)
NM_000540.3(RYR1):c.7828C>T (p.Leu2610Phe)
NM_000540.3(RYR1):c.9556C>T (p.Leu3186Phe)

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