ClinVar Miner

List of variants in gene combination AVEN, RYR3

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Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_001036.6(RYR3):c.*839A>G rs1044129 0.61246
NM_001036.6(RYR3):c.14300-19T>A rs2303310 0.56882
NM_001036.6(RYR3):c.14268C>T (p.Phe4756=) rs79305633 0.03358
NM_001036.6(RYR3):c.14118T>C (p.Asp4706=) rs113189230 0.01367
NM_001036.6(RYR3):c.14110G>A (p.Glu4704Lys) rs182257230 0.00733
NM_001036.6(RYR3):c.13938A>G (p.Leu4646=) rs199645058 0.00086
NM_001036.6(RYR3):c.14518-19G>A rs187683828 0.00062
NM_001036.6(RYR3):c.14280C>T (p.Ile4760=) rs368370540 0.00050
NM_001036.6(RYR3):c.14127C>T (p.Cys4709=) rs374117753 0.00031
NM_001036.6(RYR3):c.13877C>T (p.Ala4626Val) rs202096363 0.00011
NM_001036.6(RYR3):c.13861-4C>G rs201701548 0.00009
NM_001036.6(RYR3):c.14028C>T (p.Leu4676=) rs374667875 0.00009
NM_001036.6(RYR3):c.14130C>T (p.Asp4710=) rs369078948 0.00009
NM_001036.6(RYR3):c.14163C>T (p.Tyr4721=) rs371505693 0.00009
NM_001036.6(RYR3):c.14370A>G (p.Lys4790=) rs199553688 0.00009
NM_001036.6(RYR3):c.14599G>A (p.Asp4867Asn) rs767355524 0.00009
NM_001036.6(RYR3):c.14058G>T (p.Val4686=) rs377333580 0.00008
NM_001036.6(RYR3):c.13811T>C (p.Ile4604Thr) rs377310965 0.00006
NM_001036.6(RYR3):c.14034C>T (p.Ala4678=) rs369041765 0.00006
NM_001036.6(RYR3):c.14097C>T (p.Ser4699=) rs777658408 0.00006
NM_001036.6(RYR3):c.14098G>A (p.Glu4700Lys) rs201221837 0.00006
NM_001036.6(RYR3):c.14511G>A (p.Thr4837=) rs758219464 0.00006
NM_001036.6(RYR3):c.14583T>C (p.Phe4861=) rs762392050 0.00005
NM_001036.6(RYR3):c.13820A>T (p.Lys4607Met) rs555103509 0.00004
NM_001036.6(RYR3):c.13939T>C (p.Leu4647=) rs376267599 0.00004
NM_001036.6(RYR3):c.14103C>T (p.Asp4701=) rs202170755 0.00004
NM_001036.6(RYR3):c.14490T>C (p.Asn4830=) rs757023207 0.00004
NM_001036.6(RYR3):c.13802T>C (p.Leu4601Pro) rs1014332640 0.00003
NM_001036.6(RYR3):c.13860C>G (p.Asn4620Lys) rs567024433 0.00003
NM_001036.6(RYR3):c.14007+4T>C rs201894323 0.00003
NM_001036.6(RYR3):c.14128G>A (p.Asp4710Asn) rs431825174 0.00003
NM_001036.6(RYR3):c.14218G>C (p.Asp4740His) rs569879011 0.00003
NM_001036.6(RYR3):c.14571C>T (p.Ala4857=) rs574080321 0.00003
NM_001036.6(RYR3):c.14585G>A (p.Arg4862His) rs765872802 0.00003
NM_001036.6(RYR3):c.13913A>G (p.Asn4638Ser) rs778736021 0.00002
NM_001036.6(RYR3):c.14104G>A (p.Asp4702Asn) rs909959183 0.00002
NM_001036.6(RYR3):c.14466-8C>T rs763714958 0.00002
NM_001036.6(RYR3):c.14518-7A>G rs780896166 0.00002
NM_001036.6(RYR3):c.13801C>T (p.Leu4601=) rs868781162 0.00001
NM_001036.6(RYR3):c.13816A>G (p.Met4606Val) rs747633069 0.00001
NM_001036.6(RYR3):c.13826A>G (p.His4609Arg) rs1465461269 0.00001
NM_001036.6(RYR3):c.13842A>G (p.Gly4614=) rs1323020118 0.00001
NM_001036.6(RYR3):c.13899C>T (p.Val4633=) rs996769654 0.00001
NM_001036.6(RYR3):c.14008-9C>T rs2079850295 0.00001
NM_001036.6(RYR3):c.14070C>T (p.Asn4690=) rs754520283 0.00001
NM_001036.6(RYR3):c.14091C>A (p.Asn4697Lys) rs752422188 0.00001
NM_001036.6(RYR3):c.14142+4A>G rs1235991079 0.00001
NM_001036.6(RYR3):c.14262C>G (p.Phe4754Leu) rs1040889450 0.00001
NM_001036.6(RYR3):c.14319C>T (p.Phe4773=) rs574626021 0.00001
NM_001036.6(RYR3):c.14353G>C (p.Glu4785Gln) rs747821141 0.00001
NM_001036.6(RYR3):c.14387T>C (p.Ile4796Thr) rs764029640 0.00001
NM_001036.6(RYR3):c.14515C>A (p.Gln4839Lys) rs1225273407 0.00001
NM_001036.6(RYR3):c.14517+7A>C rs779658280 0.00001
NM_001036.6(RYR3):c.14584C>T (p.Arg4862Cys) rs1309538160 0.00001
NM_001036.6(RYR3):c.13814A>G (p.Asp4605Gly) rs1466702657
NM_001036.6(RYR3):c.13860+1G>A rs1268379736
NM_001036.6(RYR3):c.13878C>T (p.Ala4626=) rs1395244417
NM_001036.6(RYR3):c.13884T>C (p.Tyr4628=) rs1236215905
NM_001036.6(RYR3):c.13889C>G (p.Thr4630Ser) rs1307962205
NM_001036.6(RYR3):c.13910A>G (p.Tyr4637Cys) rs1555493768
NM_001036.6(RYR3):c.13989A>T (p.Val4663=)
NM_001036.6(RYR3):c.13998T>C (p.Asn4666=) rs1237804448
NM_001036.6(RYR3):c.14004A>G (p.Lys4668=) rs2153001337
NM_001036.6(RYR3):c.14031G>A (p.Leu4677=) rs1597079990
NM_001036.6(RYR3):c.14046T>C (p.Tyr4682=) rs1597080129
NM_001036.6(RYR3):c.14058G>A (p.Val4686=) rs377333580
NM_001036.6(RYR3):c.14098G>C (p.Glu4700Gln) rs201221837
NM_001036.6(RYR3):c.14124G>A (p.Lys4708=) rs1374677399
NM_001036.6(RYR3):c.14142+27_14142+46del rs139758855
NM_001036.6(RYR3):c.14142+6AGCCCACCCACTGCGGGGCC[3] rs139758855
NM_001036.6(RYR3):c.14149C>G (p.Leu4717Val) rs972426377
NM_001036.6(RYR3):c.14177C>T (p.Ala4726Val) rs1162778289
NM_001036.6(RYR3):c.14209C>G (p.Pro4737Ala) rs760373919
NM_001036.6(RYR3):c.14244C>G (p.Val4748=) rs868842736
NM_001036.6(RYR3):c.14291T>G (p.Ile4764Ser) rs2080127373
NM_001036.6(RYR3):c.14299+4T>C rs747788382
NM_001036.6(RYR3):c.14351G>A (p.Arg4784Gln)
NM_001036.6(RYR3):c.14356G>A (p.Asp4786Asn) rs1567354675
NM_001036.6(RYR3):c.14364+10C>T rs898192253
NM_001036.6(RYR3):c.14364+14A>G
NM_001036.6(RYR3):c.14397C>G (p.Asp4799Glu) rs541643213
NM_001036.6(RYR3):c.14410A>G (p.Thr4804Ala)
NM_001036.6(RYR3):c.14416C>T (p.His4806Tyr) rs2153018158
NM_001036.6(RYR3):c.14418T>C (p.His4806=) rs945157767
NM_001036.6(RYR3):c.14443G>C (p.Glu4815Gln) rs1459857507
NM_001036.6(RYR3):c.14466-7G>A rs180882042
NM_001036.6(RYR3):c.14466-7G>C rs180882042
NM_001036.6(RYR3):c.14475G>A (p.Leu4825=) rs2153026492
NM_001036.6(RYR3):c.14478G>A (p.Met4826Ile)
NM_001036.6(RYR3):c.14510C>T (p.Thr4837Met) rs745481097
NM_001036.6(RYR3):c.14518-7_14518-4dup rs775464569
NM_001036.6(RYR3):c.14535G>A (p.Lys4845=) rs2153029627
NM_001036.6(RYR3):c.14595_*9dup (p.Tyr4865_Ter4871=) rs1890080876

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