ClinVar Miner

List of variants in gene EFHC1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638 0.00059
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr) rs200116252 0.00009
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.647G>A (p.Arg216Gln) rs77682973 0.00004
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471 0.00003

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