ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_000540.3(RYR1):c.9353C>T (p.Ala3118Val) rs2915960 0.00188
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile) rs151325948 0.00061
NM_000540.3(RYR1):c.12886C>T (p.Arg4296Trp) rs995399684 0.00035
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala) rs149455643 0.00023
NM_000540.3(RYR1):c.548C>T (p.Thr183Ile) rs150038701 0.00022
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val) rs748568687 0.00020
NM_000540.3(RYR1):c.2588C>T (p.Pro863Leu) rs145456934 0.00019
NM_000540.3(RYR1):c.9886C>G (p.Leu3296Val) rs368433841 0.00019
NM_000540.3(RYR1):c.9896G>T (p.Gly3299Val) rs376790408 0.00019
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.11450A>T (p.Asp3817Val) rs372491219 0.00013
NM_000540.3(RYR1):c.9555G>C (p.Lys3185Asn) rs201080180 0.00013
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000540.3(RYR1):c.3311C>T (p.Ala1104Val) rs149096607 0.00007
NM_000540.3(RYR1):c.10280C>T (p.Pro3427Leu) rs775773632 0.00006
NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) rs766887342 0.00006
NM_000540.3(RYR1):c.2711C>T (p.Pro904Leu) rs544742812 0.00006
NM_000540.3(RYR1):c.3379C>T (p.Arg1127Cys) rs753701890 0.00005
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile) rs201174268 0.00005
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met) rs200289457 0.00005
NM_000540.3(RYR1):c.10485G>C (p.Lys3495Asn) rs753726014 0.00004
NM_000540.3(RYR1):c.12910G>A (p.Ala4304Thr) rs959143903 0.00004
NM_000540.3(RYR1):c.4657G>A (p.Val1553Ile) rs775732541 0.00004
NM_000540.3(RYR1):c.5671G>A (p.Glu1891Lys) rs990397545 0.00004
NM_000540.3(RYR1):c.13082C>T (p.Ser4361Leu) rs1385549951 0.00003
NM_000540.3(RYR1):c.2609G>A (p.Arg870Gln) rs755152453 0.00003
NM_000540.3(RYR1):c.4072G>A (p.Gly1358Arg) rs868508791 0.00003
NM_000540.3(RYR1):c.5891G>A (p.Arg1964His) rs767487116 0.00003
NM_000540.3(RYR1):c.6050A>G (p.Asp2017Gly) rs1302216965 0.00003
NM_000540.3(RYR1):c.7754C>T (p.Thr2585Ile) rs371934483 0.00003
NM_000540.3(RYR1):c.7798C>T (p.Arg2600Cys) rs1480598842 0.00003
NM_000540.3(RYR1):c.9991G>A (p.Glu3331Lys) rs754426488 0.00003
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys) rs193922764 0.00002
NM_000540.3(RYR1):c.3319G>A (p.Glu1107Lys) rs777117206 0.00002
NM_000540.3(RYR1):c.7600G>A (p.Ala2534Thr) rs1398337259 0.00002
NM_000540.3(RYR1):c.10651G>A (p.Glu3551Lys) rs753260772 0.00001
NM_000540.3(RYR1):c.10730G>A (p.Arg3577Gln) rs372914229 0.00001
NM_000540.3(RYR1):c.10760A>G (p.Asp3587Gly) rs778763130 0.00001
NM_000540.3(RYR1):c.11578G>A (p.Glu3860Lys) rs199737015 0.00001
NM_000540.3(RYR1):c.13378A>G (p.Thr4460Ala) rs1381604416 0.00001
NM_000540.3(RYR1):c.13589C>T (p.Pro4530Leu) rs754384042 0.00001
NM_000540.3(RYR1):c.15012C>A (p.His5004Gln) rs1974498761 0.00001
NM_000540.3(RYR1):c.15014C>T (p.Thr5005Met) rs763710371 0.00001
NM_000540.3(RYR1):c.3299G>A (p.Arg1100His) rs755973279 0.00001
NM_000540.3(RYR1):c.4390G>A (p.Asp1464Asn) rs368396727 0.00001
NM_000540.3(RYR1):c.7483G>A (p.Val2495Met) rs200291321 0.00001
NM_000540.3(RYR1):c.7850C>T (p.Ser2617Leu) rs780836747 0.00001
NM_000540.3(RYR1):c.8263A>G (p.Ile2755Val) rs1382963611 0.00001
NM_000540.3(RYR1):c.9650C>T (p.Ser3217Phe) rs1283174775 0.00001
NM_000540.3(RYR1):c.9703A>C (p.Ser3235Arg) rs747488155 0.00001
NM_000540.3(RYR1):c.9883G>A (p.Ala3295Thr) rs550627995 0.00001
NM_000540.3(RYR1):c.9989A>G (p.Asp3330Gly) rs529012478 0.00001
NM_000540.3(RYR1):c.10048C>G (p.Arg3350Gly)
NM_000540.3(RYR1):c.1006C>T (p.Pro336Ser)
NM_000540.3(RYR1):c.10159G>T (p.Ala3387Ser)
NM_000540.3(RYR1):c.10529T>G (p.Ile3510Ser)
NM_000540.3(RYR1):c.10531G>T (p.Val3511Leu) rs376389988
NM_000540.3(RYR1):c.10544AGA[1] (p.Lys3516del)
NM_000540.3(RYR1):c.10850A>G (p.Lys3617Arg)
NM_000540.3(RYR1):c.11449G>A (p.Asp3817Asn)
NM_000540.3(RYR1):c.12068T>C (p.Val4023Ala)
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.12127A>G (p.Met4043Val)
NM_000540.3(RYR1):c.12142G>A (p.Val4048Met)
NM_000540.3(RYR1):c.12152C>T (p.Ser4051Leu) rs1972518441
NM_000540.3(RYR1):c.12320T>A (p.Ile4107Asn)
NM_000540.3(RYR1):c.12377A>G (p.Glu4126Gly)
NM_000540.3(RYR1):c.12382G>A (p.Ala4128Thr)
NM_000540.3(RYR1):c.124G>C (p.Gly42Arg) rs759417601
NM_000540.3(RYR1):c.12583G>A (p.Glu4195Lys)
NM_000540.3(RYR1):c.12587T>G (p.Ile4196Ser)
NM_000540.3(RYR1):c.12641G>A (p.Arg4214His)
NM_000540.3(RYR1):c.12752C>T (p.Ser4251Leu)
NM_000540.3(RYR1):c.12788A>T (p.Glu4263Val)
NM_000540.3(RYR1):c.12820G>A (p.Gly4274Ser)
NM_000540.3(RYR1):c.12830A>C (p.Glu4277Ala)
NM_000540.3(RYR1):c.12944G>T (p.Arg4315Leu) rs1013126996
NM_000540.3(RYR1):c.13168G>A (p.Glu4390Lys) rs1413644550
NM_000540.3(RYR1):c.13201G>A (p.Gly4401Arg) rs1183376732
NM_000540.3(RYR1):c.13268A>C (p.Glu4423Ala) rs1358394495
NM_000540.3(RYR1):c.13385C>T (p.Pro4462Leu) rs1012029407
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp) rs753208767
NM_000540.3(RYR1):c.1378C>T (p.His460Tyr)
NM_000540.3(RYR1):c.13801G>A (p.Val4601Met)
NM_000540.3(RYR1):c.13930C>A (p.Leu4644Met)
NM_000540.3(RYR1):c.14249A>T (p.Glu4750Val) rs1002217883
NM_000540.3(RYR1):c.14690G>A (p.Gly4897Asp) rs118192148
NM_000540.3(RYR1):c.14705T>C (p.Ile4902Thr) rs1555805287
NM_000540.3(RYR1):c.14779G>A (p.Val4927Ile)
NM_000540.3(RYR1):c.14804-6C>T
NM_000540.3(RYR1):c.1750T>C (p.Ser584Pro)
NM_000540.3(RYR1):c.2528G>T (p.Arg843Leu)
NM_000540.3(RYR1):c.2866A>G (p.Lys956Glu)
NM_000540.3(RYR1):c.3270G>C (p.Glu1090Asp)
NM_000540.3(RYR1):c.3808C>T (p.Arg1270Cys) rs774705775
NM_000540.3(RYR1):c.4219C>G (p.Leu1407Val)
NM_000540.3(RYR1):c.4724C>T (p.Ser1575Leu)
NM_000540.3(RYR1):c.4801C>A (p.Pro1601Thr)
NM_000540.3(RYR1):c.5533G>C (p.Val1845Leu) rs926669024
NM_000540.3(RYR1):c.5557A>C (p.Ile1853Leu)
NM_000540.3(RYR1):c.5617G>A (p.Glu1873Lys)
NM_000540.3(RYR1):c.5708A>C (p.Lys1903Thr) rs1600784403
NM_000540.3(RYR1):c.6271C>T (p.Pro2091Ser)
NM_000540.3(RYR1):c.6355G>A (p.Ala2119Thr)
NM_000540.3(RYR1):c.6479G>T (p.Gly2160Val) rs1969716005
NM_000540.3(RYR1):c.6514C>T (p.Pro2172Ser)
NM_000540.3(RYR1):c.6707T>G (p.Leu2236Arg) rs1969830618
NM_000540.3(RYR1):c.7108G>A (p.Gly2370Ser)
NM_000540.3(RYR1):c.7435C>A (p.Leu2479Met)
NM_000540.3(RYR1):c.7819C>T (p.Leu2607Phe)
NM_000540.3(RYR1):c.7850C>G (p.Ser2617Trp)
NM_000540.3(RYR1):c.7876C>G (p.Leu2626Val) rs145446438
NM_000540.3(RYR1):c.7949G>A (p.Arg2650His)
NM_000540.3(RYR1):c.8044A>G (p.Ile2682Val)
NM_000540.3(RYR1):c.8654C>T (p.Thr2885Met)
NM_000540.3(RYR1):c.8809G>A (p.Val2937Ile)
NM_000540.3(RYR1):c.9034A>G (p.Asn3012Asp)
NM_000540.3(RYR1):c.904G>T (p.Asp302Tyr)
NM_000540.3(RYR1):c.9061C>T (p.Pro3021Ser)
NM_000540.3(RYR1):c.9158G>A (p.Arg3053Gln)
NM_000540.3(RYR1):c.9250G>A (p.Gly3084Ser)
NM_000540.3(RYR1):c.9289G>A (p.Glu3097Lys)
NM_000540.3(RYR1):c.9299C>T (p.Ser3100Leu)
NM_000540.3(RYR1):c.9391T>C (p.Tyr3131His)
NM_000540.3(RYR1):c.965T>C (p.Leu322Pro)
NM_000540.3(RYR1):c.9764G>T (p.Gly3255Val)
NM_000540.3(RYR1):c.97A>C (p.Lys33Gln)
NM_000540.3(RYR1):c.9907C>T (p.Pro3303Ser)

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