ClinVar Miner

List of variants in gene combination LOC126806068, RYR2 reported as likely benign for Cardiomyopathy

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869 0.00038
NM_001035.3(RYR2):c.12917T>C (p.Phe4306Ser) rs776091285 0.00026
NM_001035.3(RYR2):c.12842C>T (p.Thr4281Met) rs201829896 0.00025
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=) rs377293019 0.00023
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=) rs369917806 0.00021
NM_001035.3(RYR2):c.13069G>A (p.Ala4357Thr) rs747622318 0.00009
NM_001035.3(RYR2):c.13080C>T (p.Ser4360=) rs369964660 0.00007
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=) rs772125105 0.00003
NM_001035.3(RYR2):c.13044G>A (p.Glu4348=) rs559197657 0.00003
NM_001035.3(RYR2):c.12579C>T (p.Cys4193=) rs369532267 0.00002
NM_001035.3(RYR2):c.12957C>T (p.Val4319=) rs727504438 0.00002
NM_001035.3(RYR2):c.12435C>T (p.Ile4145=) rs954641240 0.00001
NM_001035.3(RYR2):c.12471A>G (p.Arg4157=) rs751897207 0.00001
NM_001035.3(RYR2):c.12489C>T (p.Pro4163=) rs777321777 0.00001
NM_001035.3(RYR2):c.12612T>C (p.Ala4204=) rs1215759635 0.00001
NM_001035.3(RYR2):c.12621G>A (p.Ser4207=) rs969138992 0.00001
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=) rs3753631 0.00001
NM_001035.3(RYR2):c.12648G>A (p.Ala4216=) rs781557399 0.00001
NM_001035.3(RYR2):c.12678G>A (p.Pro4226=) rs768348987 0.00001
NM_001035.3(RYR2):c.12693G>A (p.Pro4231=) rs748387463 0.00001
NM_001035.3(RYR2):c.12715C>T (p.Leu4239=) rs766396305 0.00001
NM_001035.3(RYR2):c.12720G>C (p.Thr4240=) rs774851947 0.00001
NM_001035.3(RYR2):c.12747G>A (p.Arg4249=) rs1695385545 0.00001
NM_001035.3(RYR2):c.12780T>C (p.Ser4260=) rs747941271 0.00001
NM_001035.3(RYR2):c.12826G>A (p.Val4276Met) rs368599791 0.00001
NM_001035.3(RYR2):c.12843G>A (p.Thr4281=) rs751069299 0.00001
NM_001035.3(RYR2):c.12906C>T (p.Phe4302=) rs1265667422 0.00001
NM_001035.3(RYR2):c.12960A>G (p.Glu4320=) rs1456795811 0.00001
NM_001035.3(RYR2):c.12991T>C (p.Leu4331=) rs1327823442 0.00001
NM_001035.3(RYR2):c.12469C>A (p.Arg4157=) rs1247580708
NM_001035.3(RYR2):c.12525C>T (p.Asp4175=) rs1347472531
NM_001035.3(RYR2):c.12609G>A (p.Ala4203=) rs372943408
NM_001035.3(RYR2):c.12624G>A (p.Glu4208=) rs1695373170
NM_001035.3(RYR2):c.12678G>T (p.Pro4226=) rs768348987
NM_001035.3(RYR2):c.12792G>A (p.Leu4264=) rs749454470
NM_001035.3(RYR2):c.12795G>A (p.Lys4265=) rs1695389411
NM_001035.3(RYR2):c.12840C>A (p.Val4280=) rs1695393350
NM_001035.3(RYR2):c.12975C>T (p.Ile4325=) rs1323310654
NM_001035.3(RYR2):c.12990G>T (p.Leu4330=) rs1558407591
NM_001035.3(RYR2):c.13035T>C (p.Asp4345=) rs746030676
NM_001035.3(RYR2):c.13065A>G (p.Glu4355=) rs1695412040
NM_001035.3(RYR2):c.13077C>T (p.Pro4359=) rs1695413897
NM_001035.3(RYR2):c.13134C>T (p.Asp4378=) rs1695418135

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