ClinVar Miner

List of variants in gene EFHC1 reported by Athena Diagnostics Inc

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.18650
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
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_018100.4(EFHC1):c.881G>A (p.Arg294His) rs1570624 0.00969
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.1224C>T (p.Asp408=) rs116134831 0.00613
NM_018100.4(EFHC1):c.25T>C (p.Leu9=) rs149315015 0.00264
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_018100.4(EFHC1):c.64-5T>C rs201860746 0.00063
NM_018100.4(EFHC1):c.1369C>T (p.Arg457Cys) rs373196171 0.00015
NM_018100.4(EFHC1):c.574G>A (p.Val192Ile) rs781665913 0.00009
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721 0.00008
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191 0.00006
NM_018100.4(EFHC1):c.668A>G (p.Tyr223Cys) rs1307612935 0.00003
NM_018100.4(EFHC1):c.873A>G (p.Leu291=) rs778432296 0.00002
NM_018100.4(EFHC1):c.*25A>T rs771508456 0.00001
NM_018100.4(EFHC1):c.140T>A (p.Ile47Lys) rs368839861 0.00001
NM_018100.4(EFHC1):c.15C>T (p.Pro5=) rs1339961633 0.00001
NM_018100.4(EFHC1):c.1003C>G (p.Leu335Val) rs749929571
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506

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