ClinVar Miner

List of variants in gene EFHC1 reported as likely benign by GeneDx

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.1493-34C>T rs77741653 0.00605
NM_018100.4(EFHC1):c.1137+31G>T rs115160207 0.00595
NM_018100.4(EFHC1):c.1279-57G>T rs115736914 0.00594
NM_018100.4(EFHC1):c.917-72G>A rs114196074 0.00594
NC_000006.12:g.52420101A>G rs150082340 0.00588
NC_000006.12:g.52420332G>T rs114013470 0.00080
NM_018100.4(EFHC1):c.97T>C (p.Tyr33His) rs374402088 0.00036
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=) rs145194882 0.00024
NM_018100.4(EFHC1):c.1584C>T (p.Leu528=) rs774640110 0.00006
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191 0.00006
NM_018100.4(EFHC1):c.627T>C (p.Leu209=) rs141142186 0.00003
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala) rs750899949 0.00002
NM_018100.4(EFHC1):c.1278+15T>C rs376515287 0.00001
NM_018100.4(EFHC1):c.547G>A (p.Val183Ile) rs769591944 0.00001
NM_018100.4(EFHC1):c.*140C>T rs78906153
NM_018100.4(EFHC1):c.-13G>A rs1057520834
NM_018100.4(EFHC1):c.1852-48G>T rs60636755

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