ClinVar Miner

List of variants reported as benign for Myopathy, centronuclear, 2

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_139343.3(BIN1):c.84+4287G>T rs755639 0.56496
NM_139343.3(BIN1):c.1002+163T>C rs2276582 0.53506
NM_139343.3(BIN1):c.1372-90C>T rs6745677 0.38066
NM_139343.3(BIN1):c.1573-128T>A rs2071270 0.35075
NM_139343.3(BIN1):c.1132-126_1132-125dup rs35339559 0.33588
NM_139343.3(BIN1):c.412-25T>C rs67327804 0.33319
NM_139343.3(BIN1):c.698+10A>G rs72481904 0.30545
NM_139343.3(BIN1):c.774+62G>A rs2071268 0.30494
NM_139343.3(BIN1):c.486T>C (p.Thr162=) rs1060743 0.29063
NM_139343.3(BIN1):c.1674+56G>A rs7568161 0.20707
NM_139343.3(BIN1):c.858-12C>A rs6720741 0.20254
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579 0.13837
NM_139343.3(BIN1):c.-27C>T rs11554586 0.13209
NM_139343.3(BIN1):c.775-4G>A rs61748157 0.10181
NM_139343.3(BIN1):c.1573-18G>C rs12466912 0.04714
NM_139343.3(BIN1):c.714C>T (p.Tyr238=) rs1137845 0.04283
NM_139343.3(BIN1):c.894G>A (p.Ser298=) rs2228955 0.03955
NM_139343.3(BIN1):c.1595C>T (p.Thr532Met) rs112318500 0.03069
NM_139343.3(BIN1):c.1362G>T (p.Gly454=) rs61748155 0.01414
NM_139343.3(BIN1):c.1263+11C>T rs78967885 0.00935
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg) rs138047593 0.00841
NM_139343.3(BIN1):c.1132-7T>C rs115938552 0.00498
NM_139343.3(BIN1):c.888C>T (p.Ser296=) rs114833236 0.00403
NM_139343.3(BIN1):c.1131+18C>T rs191760397 0.00233
NM_139343.3(BIN1):c.858-5C>T rs75328896 0.00222
NM_139343.3(BIN1):c.384G>A (p.Thr128=) rs61748158 0.00203
NM_139343.3(BIN1):c.1540C>T (p.Arg514Cys) rs148422103 0.00152
NM_139343.3(BIN1):c.1611C>T (p.Asp537=) rs142523172 0.00101
NM_139343.3(BIN1):c.1003-15G>A rs149290511 0.00095
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012 0.00067
NM_139343.3(BIN1):c.1292C>T (p.Pro431Leu) rs141119288 0.00043
NM_139343.3(BIN1):c.1674+20G>A rs374227714 0.00029
NM_139343.3(BIN1):c.316-19G>A rs369840788 0.00018
NM_139343.3(BIN1):c.1131+9C>T rs138606879 0.00005
NM_139343.3(BIN1):c.1003-16C>T rs547659375 0.00003
NM_139343.3(BIN1):c.*82C>A rs111649895
NM_139343.3(BIN1):c.1132-22TGC[7] rs748026377
NM_139343.3(BIN1):c.1573-63C>T rs7558000
NM_139343.3(BIN1):c.1573-72C>T rs7558001

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