ClinVar Miner

List of variants in gene RYR2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_001035.3(RYR2):c.*787C>A rs143228973 0.00997
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_001035.3(RYR2):c.8715-30G>A rs114806261 0.00689
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=) rs116601686 0.00399
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=) rs115854664 0.00333
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_001035.3(RYR2):c.6555+6G>A rs372661934 0.00228
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966 0.00132
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00123
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=) rs201916326 0.00117
NM_001035.3(RYR2):c.*509A>G rs565288028 0.00105
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621 0.00071
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001035.3(RYR2):c.7233C>T (p.Ala2411=) rs367994477 0.00046
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287 0.00039
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663 0.00030
NM_001035.3(RYR2):c.10231-5C>T rs186326951 0.00028
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907 0.00025
NM_001035.3(RYR2):c.6689-12T>C rs370972311 0.00025
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315 0.00016
NM_001035.3(RYR2):c.7075C>A (p.Arg2359=) rs200921429 0.00016
NM_001035.3(RYR2):c.1476+4C>T rs369442980 0.00014
NM_001035.3(RYR2):c.14703G>C (p.Val4901=) rs201371633 0.00013
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624 0.00013
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=) rs199730192 0.00013
NM_001035.3(RYR2):c.10221G>A (p.Ser3407=) rs373769240 0.00011
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) rs371088367 0.00011
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=) rs371934582 0.00010
NM_001035.3(RYR2):c.684C>T (p.Leu228=) rs72549417 0.00008
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588 0.00007
NM_001035.3(RYR2):c.1491C>T (p.Leu497=) rs774279425 0.00007
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn) rs761770946 0.00006
NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser) rs199624074 0.00005
NM_001035.3(RYR2):c.5454T>C (p.Phe1818=) rs201218861 0.00005
NM_001035.3(RYR2):c.8147A>T (p.Lys2716Ile) rs749618476 0.00005
NM_001035.3(RYR2):c.11382C>T (p.Ala3794=) rs760519786 0.00004
NM_001035.3(RYR2):c.5508C>T (p.Asn1836=) rs777640285 0.00004
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met) rs770863319 0.00004
NM_001035.3(RYR2):c.5637T>C (p.Gly1879=) rs751554639 0.00004
NM_001035.3(RYR2):c.7539C>G (p.Ala2513=) rs745761104 0.00004
NM_001035.3(RYR2):c.7623C>T (p.His2541=) rs753435083 0.00004
NM_001035.3(RYR2):c.1665C>T (p.Leu555=) rs371262363 0.00003
NM_001035.3(RYR2):c.1779T>C (p.His593=) rs551327128 0.00003
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=) rs397516537 0.00003
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=) rs755520825 0.00003
NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met) rs200803276 0.00002
NM_001035.3(RYR2):c.2130C>T (p.Gly710=) rs536694711 0.00002
NM_001035.3(RYR2):c.3168G>A (p.Thr1056=) rs1183058696 0.00002
NM_001035.3(RYR2):c.5199G>A (p.Thr1733=) rs758505260 0.00002
NM_001035.3(RYR2):c.6013A>G (p.Thr2005Ala) rs373235823 0.00002
NM_001035.3(RYR2):c.1077A>G (p.Ser359=) rs727505317 0.00001
NM_001035.3(RYR2):c.11634A>G (p.Leu3878=) rs587781143 0.00001
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) rs764698152 0.00001
NM_001035.3(RYR2):c.13425G>T (p.Val4475=) rs760691911 0.00001
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=) rs375213838 0.00001
NM_001035.3(RYR2):c.1477-7G>A rs763127313 0.00001
NM_001035.3(RYR2):c.1699G>C (p.Ala567Pro) rs753758467 0.00001
NM_001035.3(RYR2):c.2922T>C (p.Ser974=) rs750392459 0.00001
NM_001035.3(RYR2):c.4266A>G (p.Gln1422=) rs759662492 0.00001
NM_001035.3(RYR2):c.4653T>C (p.Asn1551=) rs759834317 0.00001
NM_001035.3(RYR2):c.5136C>T (p.Ser1712=) rs397516540 0.00001
NM_001035.3(RYR2):c.5419C>T (p.Arg1807Trp) rs752863160 0.00001
NM_001035.3(RYR2):c.5645A>G (p.Glu1882Gly) rs376441643 0.00001
NM_001035.3(RYR2):c.6504C>T (p.His2168=) rs760237464 0.00001
NM_001035.3(RYR2):c.6825A>G (p.Gln2275=) rs529339356 0.00001
NM_001035.3(RYR2):c.7230T>C (p.His2410=) rs754982634 0.00001
GRCh37/hg19 1q43(chr1:237580349-237997288)x3
NM_001035.3(RYR2):c.*645_*646del
NM_001035.3(RYR2):c.*711C>G rs544493822
NM_001035.3(RYR2):c.*713_*716dup
NM_001035.3(RYR2):c.*715_*716del
NM_001035.3(RYR2):c.*716_*722del
NM_001035.3(RYR2):c.10109A>G (p.Tyr3370Cys) rs1573615550
NM_001035.3(RYR2):c.10302T>A (p.Asp3434Glu)
NM_001035.3(RYR2):c.10383G>A (p.Met3461Ile)
NM_001035.3(RYR2):c.10721G>A (p.Cys3574Tyr)
NM_001035.3(RYR2):c.120_135dup (p.Leu46fs) rs1689579412
NM_001035.3(RYR2):c.13320A>T (p.Glu4440Asp) rs1573942787
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp) rs794728799
NM_001035.3(RYR2):c.1395C>G (p.Pro465=) rs111990043
NM_001035.3(RYR2):c.14288A>G (p.Asn4763Ser) rs794728803
NM_001035.3(RYR2):c.14434-5T>C rs2102824382
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14571T>C (p.Ile4857=) rs1662155861
NM_001035.3(RYR2):c.14656-1G>A rs868323381
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.1953T>C (p.His651=) rs1663595328
NM_001035.3(RYR2):c.2190T>C (p.Leu730=) rs991873417
NM_001035.3(RYR2):c.273+1_273+2insT
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=) rs575899061
NM_001035.3(RYR2):c.3078C>G (p.Asn1026Lys)
NM_001035.3(RYR2):c.4436+479G>A
NM_001035.3(RYR2):c.4557A>G (p.Thr1519=)
NM_001035.3(RYR2):c.4569T>C (p.Asn1523=)
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.3(RYR2):c.4748C>T (p.Pro1583Leu) rs1421328710
NM_001035.3(RYR2):c.4929G>A (p.Glu1643=) rs1573122061
NM_001035.3(RYR2):c.5012G>A (p.Arg1671Gln) rs777091366
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.6503_6504delinsT (p.His2168fs)
NM_001035.3(RYR2):c.6871A>G (p.Asn2291Asp) rs1681101676
NM_001035.3(RYR2):c.6888G>A (p.Glu2296=)
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001035.3(RYR2):c.7244A>G (p.Glu2415Gly)
NM_001035.3(RYR2):c.7545C>T (p.Ala2515=)
NM_001035.3(RYR2):c.773+3T>G
NM_001035.3(RYR2):c.8383G>A (p.Gly2795Arg)
NM_001035.3(RYR2):c.8578T>C (p.Leu2860=)
NM_001035.3(RYR2):c.8775C>T (p.Phe2925=)
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=) rs2797436
NM_001035.3(RYR2):c.9363A>G (p.Leu3121=) rs2149032167
NM_001035.3(RYR2):c.9508T>A (p.Phe3170Ile)
NM_001035.3(RYR2):c.9880G>A (p.Ala3294Thr) rs746868168

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