ClinVar Miner

Variants in gene EFHC1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 23
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.*881A>T rs6926242 0.90714
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.18650
NM_018100.4(EFHC1):c.*871C>G rs78956562 0.09084
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_018100.3(EFHC1):c.-195A>G rs2296196 0.04417
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.629A>T (p.Asp210Val) rs73740379 0.00408
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.1155C>T (p.Asn385=) rs115913738 0.00210
NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys) rs505760 0.00170
NM_018100.4(EFHC1):c.64-5T>C rs201860746 0.00063
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys) rs139197513 0.00019
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191 0.00006
NM_018100.3(EFHC1):c.-148_-147GC[1] rs796720054
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly) rs3804506
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506

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