ClinVar Miner

Variants in gene KNL1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_144508.5(KNL1):c.2369C>G (p.Thr790Ser) rs33931006 0.01841
NM_144508.5(KNL1):c.1233G>C (p.Met411Ile) rs116093409 0.00245
NM_144508.5(KNL1):c.5271C>T (p.Cys1757=) rs191249840 0.00173
NM_144508.5(KNL1):c.4379T>C (p.Ile1460Thr) rs187007187 0.00162
NM_144508.5(KNL1):c.4772A>G (p.Asn1591Ser) rs200656662 0.00135
NM_144508.5(KNL1):c.165C>T (p.Asn55=) rs201818761 0.00125
NM_144508.5(KNL1):c.2311G>A (p.Val771Ile) rs151288115 0.00107
NM_144508.5(KNL1):c.251-7T>A rs555296963 0.00106
NM_144508.5(KNL1):c.4231G>A (p.Gly1411Arg) rs150569450 0.00103
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly) rs142872154 0.00097
NM_144508.5(KNL1):c.2949A>G (p.Leu983=) rs201182330 0.00092
NM_144508.5(KNL1):c.2268A>G (p.Ser756=) rs202012571 0.00073
NM_144508.5(KNL1):c.251-9T>C rs371294019 0.00066
NM_144508.5(KNL1):c.606C>T (p.Ser202=) rs776234628 0.00009
NM_144508.5(KNL1):c.1768G>T (p.Ala590Ser) rs201334214 0.00006
NM_144508.5(KNL1):c.3573A>G (p.Ile1191Met) rs200222327 0.00006
NM_144508.5(KNL1):c.2425_2427del (p.Gly809del) rs761320880

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