ClinVar Miner

Variants in gene MKS1 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_017777.4(MKS1):c.191-44G>A rs73329636 0.06342
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_017777.4(MKS1):c.*38del rs34304018 0.00322
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00174
NM_017777.4(MKS1):c.1014G>A (p.Leu338=) rs201998680 0.00060
NM_017777.4(MKS1):c.1128G>A (p.Thr376=) rs369141016 0.00013
NM_017777.4(MKS1):c.1435C>T (p.Arg479Cys) rs769442220 0.00010

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