ClinVar Miner

List of variants in gene EFHC1 reported as benign for not provided

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.*881A>T rs6926242 0.90714
NM_018100.4(EFHC1):c.*121C>A rs7757370 0.87583
NM_018100.4(EFHC1):c.*1180G>A rs4455668 0.87433
NM_018100.4(EFHC1):c.1851+58T>C rs2273120 0.69438
NM_018100.4(EFHC1):c.286-180T>A rs9370122 0.32317
NM_018100.4(EFHC1):c.1278+100T>C rs62407897 0.18961
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.18650
NM_018100.4(EFHC1):c.63+123G>C rs12206743 0.18197
NM_018100.4(EFHC1):c.1492+175_1492+176del rs55987008 0.09578
NM_018100.4(EFHC1):c.*871C>G rs78956562 0.09084
NM_018100.4(EFHC1):c.917-118G>T rs3804502 0.09052
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_018100.4(EFHC1):c.1640+77A>C rs515432 0.07945
NM_018100.4(EFHC1):c.286-54G>T rs539295 0.07944
NM_018100.4(EFHC1):c.1138-293del rs112649755 0.07937
NM_018100.4(EFHC1):c.917-183G>A rs16882561 0.07623
NM_018100.4(EFHC1):c.*1025A>C rs547999372 0.07191
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770 0.06310
NM_018100.4(EFHC1):c.545G>A (p.Arg182His) rs3804505 0.05453
NM_018100.3(EFHC1):c.-195A>G rs2296196 0.04417
NM_018100.4(EFHC1):c.1851+226A>G rs2397091 0.04132
NM_018100.4(EFHC1):c.1851+279C>T rs72925221 0.03244
NM_018100.4(EFHC1):c.*1023A>C rs531389664 0.02945
NM_018100.4(EFHC1):c.*1044_*1045insA rs1554262447 0.01320
NM_018100.4(EFHC1):c.*1027A>C rs190868766 0.01316
NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=) rs35648306 0.00805
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334 0.00789
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183 0.00778
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_018100.4(EFHC1):c.1820A>G (p.Asn607Ser) rs115475262 0.00140
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys) rs139197513 0.00019
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191 0.00006
NC_000006.12:g.52413132G>T
NC_000006.12:g.52419923G>C rs492153
NM_018100.3(EFHC1):c.-148_-147GC[1] rs796720054
NM_018100.4(EFHC1):c.*1045_*1046insATATATATATATA rs60720755
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506
NM_018100.4(EFHC1):c.64-158G>C rs62407871
NM_018100.4(EFHC1):c.64-262del rs59383268
NM_018100.4(EFHC1):c.916+166C>T rs614570

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