ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
Total variants with conflicting interpretations: 22
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.545G>A (p.Arg182His) rs3804505 0.05453
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638 0.00056
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=) rs145194882 0.00021
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys) rs139197513 0.00019
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp) rs527295360 0.00017
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr) rs200116252 0.00009
NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln) rs377732929 0.00008
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721 0.00008
NM_018100.4(EFHC1):c.89C>T (p.Thr30Met) rs200435907 0.00008
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191 0.00006
NM_018100.4(EFHC1):c.1852-6C>G rs372507832 0.00006
NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser) rs142458862 0.00006
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp) rs374661645 0.00005
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471 0.00003
NM_018100.4(EFHC1):c.544C>T (p.Arg182Cys) rs200191497 0.00003
NM_018100.4(EFHC1):c.1667T>C (p.Val556Ala) rs543750772 0.00002
NM_018100.4(EFHC1):c.15C>T (p.Pro5=) rs1339961633 0.00001
NM_018100.4(EFHC1):c.22G>C (p.Gly8Arg) rs200510672 0.00001
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala) rs750899949 0.00001
NM_018100.4(EFHC1):c.547G>A (p.Val183Ile) rs769591944 0.00001
NM_018100.4(EFHC1):c.564A>G (p.Gln188=) rs766444850 0.00001

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