ClinVar Miner

List of variants reported as benign for Nemaline myopathy 10

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_198271.5(LMOD3):c.642G>A (p.Ser214=) rs9815992 0.04475
NM_198271.5(LMOD3):c.1270T>C (p.Leu424=) rs72924884 0.03865
NM_198271.5(LMOD3):c.759T>C (p.Pro253=) rs115972674 0.02947
NM_198271.5(LMOD3):c.248G>A (p.Arg83His) rs35740823 0.02551
NM_198271.5(LMOD3):c.878G>A (p.Gly293Asp) rs111797345 0.01530
NM_198271.5(LMOD3):c.1226A>G (p.Gln409Arg) rs116257053 0.01432
NM_198271.5(LMOD3):c.1679C>T (p.Ala560Val) rs17005363 0.01345
NM_198271.5(LMOD3):c.1655C>A (p.Pro552His) rs145387235 0.01335
NM_198271.5(LMOD3):c.252G>A (p.Met84Ile) rs78574883 0.00968
NM_198271.5(LMOD3):c.253C>A (p.Leu85Met) rs80113271 0.00968
NM_198271.5(LMOD3):c.1144C>T (p.Pro382Ser) rs74350755 0.00814
NM_198271.5(LMOD3):c.1313A>T (p.Lys438Met) rs6810145 0.00516
NM_198271.5(LMOD3):c.1493G>A (p.Arg498Gln) rs116440123 0.00513
NM_198271.5(LMOD3):c.1257G>C (p.Met419Ile) rs75713718 0.00383
NM_198271.5(LMOD3):c.135C>T (p.Asp45=) rs138906041 0.00198
NM_198271.5(LMOD3):c.837G>A (p.Lys279=) rs185967498 0.00138
NM_198271.5(LMOD3):c.1657-14T>C rs200984574 0.00137
NM_198271.5(LMOD3):c.132T>C (p.Pro44=) rs774850879 0.00003
NM_198271.5(LMOD3):c.1617A>G (p.Leu539=) rs374084990 0.00003
NM_198271.5(LMOD3):c.252_253delinsAA (p.Met84_Leu85delinsIleMet) rs1553688177
NM_198271.5(LMOD3):c.39_41del (p.Leu14del) rs139192915
NM_198271.5(LMOD3):c.426A>C (p.Glu142Asp) rs111848977
NM_198271.5(LMOD3):c.426A>G (p.Glu142=) rs111848977

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