ClinVar Miner

List of variants in gene KRT86 studied for Monilethrix

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001320198.2(KRT86):c.684T>C (p.Asn228=) rs200750977 0.03259
NM_001320198.2(KRT86):c.1102T>C (p.Leu368=) rs11170087 0.01184
NM_001320198.2(KRT86):c.1204G>A (p.Glu402Lys) rs60687604 0.00001
NM_001320198.2(KRT86):c.1053T>C (p.Ala351=) rs28733260
NM_001320198.2(KRT86):c.1204G>C (p.Glu402Gln) rs60687604
NM_001320198.2(KRT86):c.1237G>A (p.Glu413Lys) rs121909129
NM_001320198.2(KRT86):c.1239G>T (p.Glu413Asp) rs121909130
NM_001320198.2(KRT86):c.340A>G (p.Asn114Asp) rs61091894
NM_001320198.2(KRT86):c.353C>A (p.Ala118Glu) rs60612575

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