ClinVar Miner

List of variants in gene KLHL40 reported as benign by PreventionGenetics, part of Exact Sciences

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_152393.4(KLHL40):c.1849T>C (p.Cys617Arg) rs123509 0.81037
NM_152393.4(KLHL40):c.1034A>G (p.Asn345Ser) rs6805421 0.59704
NM_152393.4(KLHL40):c.324A>G (p.Ala108=) rs35033264 0.03599
NM_152393.4(KLHL40):c.1053C>T (p.His351=) rs61736693 0.03162
NM_152393.4(KLHL40):c.1104C>T (p.Phe368=) rs147863385 0.00642
NM_152393.4(KLHL40):c.1540G>A (p.Val514Met) rs146266900 0.00391
NM_152393.4(KLHL40):c.1313+7A>G rs185171192 0.00259
NM_152393.4(KLHL40):c.872A>C (p.Lys291Thr) rs74843241 0.00168
NM_152393.4(KLHL40):c.1738C>A (p.Leu580Ile) rs149980411 0.00033
NM_152393.4(KLHL40):c.277G>C (p.Glu93Gln) rs202061995 0.00024
NM_152393.4(KLHL40):c.1762GAG[2] (p.Glu590del) rs142843476

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