ClinVar Miner

List of variants in gene EPCAM reported as benign by Invitae

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_002354.3(EPCAM):c.344T>C (p.Met115Thr) rs1126497 0.58219
NM_002354.3(EPCAM):c.492-5T>C rs78608315 0.02826
NM_002354.3(EPCAM):c.859-7C>T rs72882786 0.02290
NM_002354.3(EPCAM):c.345G>A (p.Met115Ile) rs115212523 0.00311
NM_002354.3(EPCAM):c.135A>G (p.Gln45=) rs72882770 0.00298
NM_002354.3(EPCAM):c.858G>A (p.Leu286=) rs138718438 0.00222
NM_002354.3(EPCAM):c.515C>T (p.Thr172Met) rs74531854 0.00220
NM_002354.3(EPCAM):c.5C>T (p.Ala2Val) rs201402370 0.00192
NM_002354.3(EPCAM):c.859-6A>G rs150307203 0.00191
NM_002354.3(EPCAM):c.831A>G (p.Ile277Met) rs115283528 0.00135
NM_002354.3(EPCAM):c.159A>C (p.Ala53=) rs150562209 0.00105
NM_002354.3(EPCAM):c.657+10A>G rs374108293 0.00053
NM_002354.3(EPCAM):c.458G>C (p.Arg153Thr) rs189732445 0.00020
NM_002354.3(EPCAM):c.63C>G (p.Ala21=) rs549177672 0.00019
NM_002354.3(EPCAM):c.76+6G>T rs774722931 0.00013
NM_002354.3(EPCAM):c.106G>A (p.Val36Ile) rs771315207 0.00006
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002354.3(EPCAM):c.344_345inv (p.Met115Thr)
NM_002354.3(EPCAM):c.50C>A (p.Thr17Lys) rs116429842

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