ClinVar Miner

List of variants in gene RYR2 reported as likely benign by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_001035.3(RYR2):c.9560A>G (p.Lys3187Arg) rs184218219 0.00137
NM_001035.3(RYR2):c.1135G>A (p.Val379Met) rs199693714 0.00104
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser) rs202015519 0.00061
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala) rs202176504 0.00057
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001035.3(RYR2):c.7925G>A (p.Arg2642Lys) rs377473366 0.00034
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663 0.00030
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys) rs551099887 0.00024
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg) rs200121281 0.00021
NM_001035.3(RYR2):c.2755G>A (p.Val919Met) rs201079716 0.00016
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His) rs373024059 0.00016
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690 0.00016
NM_001035.3(RYR2):c.1476+4C>T rs369442980 0.00014
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001035.3(RYR2):c.8367T>C (p.Ile2789=) rs563219502 0.00014
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624 0.00013
NM_001035.3(RYR2):c.8419A>G (p.Ile2807Val) rs1394059438 0.00011
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser) rs373665895 0.00009
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala) rs776046135 0.00009
NM_001035.3(RYR2):c.639C>T (p.Ser213=) rs375180398 0.00009
NM_001035.3(RYR2):c.7511C>T (p.Thr2504Met) rs769219555 0.00009
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460 0.00008
NM_001035.3(RYR2):c.4735G>A (p.Val1579Met) rs763389778 0.00008
NM_001035.3(RYR2):c.1511G>A (p.Arg504His) rs201600087 0.00006
NM_001035.3(RYR2):c.1962-12G>A rs368241264 0.00006
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=) rs756280887 0.00004
NM_001035.3(RYR2):c.14875C>T (p.Arg4959Trp) rs755308070 0.00004
NM_001035.3(RYR2):c.385-14T>C rs372287944 0.00004
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile) rs201675951 0.00004
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) rs200318013 0.00004
NM_001035.3(RYR2):c.601T>C (p.Leu201=) rs752523583 0.00004
NM_001035.3(RYR2):c.11877G>A (p.Ser3959=) rs754610647 0.00003
NM_001035.3(RYR2):c.13672C>T (p.His4558Tyr) rs773264033 0.00003
NM_001035.3(RYR2):c.14152-15G>A rs371785571 0.00003
NM_001035.3(RYR2):c.14896C>T (p.Leu4966=) rs368031082 0.00002
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu) rs754364233 0.00002
NM_001035.3(RYR2):c.11205C>T (p.Gly3735=) rs756763032 0.00001
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=) rs184625125 0.00001
NM_001035.3(RYR2):c.14469T>C (p.Ala4823=) rs1164805007 0.00001
NM_001035.3(RYR2):c.2223A>G (p.Val741=) rs117242563 0.00001
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys) rs533330664 0.00001
NM_001035.3(RYR2):c.3735G>A (p.Arg1245=) rs190884873 0.00001
NM_001035.3(RYR2):c.4182G>A (p.Lys1394=) rs953147627 0.00001
NM_001035.3(RYR2):c.4215C>T (p.Leu1405=) rs754504287 0.00001
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln) rs727504850 0.00001
NM_001035.3(RYR2):c.4266A>G (p.Gln1422=) rs759662492 0.00001
NM_001035.3(RYR2):c.6336C>T (p.Ser2112=) rs373777614 0.00001
NM_001035.3(RYR2):c.8019G>A (p.Ala2673=) rs745484020 0.00001
NM_001035.3(RYR2):c.819C>T (p.Ser273=) rs746461178 0.00001
NM_001035.3(RYR2):c.8287T>C (p.Leu2763=) rs1057520868 0.00001
NM_001035.3(RYR2):c.9432G>A (p.Lys3144=) rs367780360 0.00001
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=) rs184937795 0.00001
NM_001035.3(RYR2):c.10632A>G (p.Pro3544=) rs1689897244
NM_001035.3(RYR2):c.11092-13_11092-11del rs397516499
NM_001035.3(RYR2):c.11092-14_11092-11del rs397516499
NM_001035.3(RYR2):c.11092-14_11092-11dup rs397516499
NM_001035.3(RYR2):c.1119T>C (p.Thr373=)
NM_001035.3(RYR2):c.11667T>C (p.Tyr3889=)
NM_001035.3(RYR2):c.11881-19G>T
NM_001035.3(RYR2):c.12240C>T (p.Tyr4080=) rs1335612184
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT rs727504630
NM_001035.3(RYR2):c.1477-14_1477-11dup rs397516518
NM_001035.3(RYR2):c.1612+13_1612+14delinsGC rs1064795529
NM_001035.3(RYR2):c.1740A>G (p.Val580=) rs2150412954
NM_001035.3(RYR2):c.1932G>A (p.Leu644=)
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser) rs779910353
NM_001035.3(RYR2):c.219C>T (p.Leu73=) rs1057522387
NM_001035.3(RYR2):c.459C>T (p.Thr153=)
NM_001035.3(RYR2):c.464-9_464-8delinsCC rs1572045142
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala) rs778783933
NM_001035.3(RYR2):c.4821T>C (p.Asp1607=) rs868510940
NM_001035.3(RYR2):c.6556-16C>T rs1160418526
NM_001035.3(RYR2):c.711G>C (p.Leu237=) rs759018901
NM_001035.3(RYR2):c.848+18A>G
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del) rs794728835

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