ClinVar Miner

List of variants in gene COG6 reported as uncertain significance for diffuse palmoplantar keratoderma

Included ClinVar conditions (56):
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Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_020751.3(COG6):c.1759C>T (p.Arg587Cys) rs144843064 0.00061
NM_020751.3(COG6):c.*1532T>G rs61954232 0.00042
NM_020751.3(COG6):c.155A>G (p.Glu52Gly) rs201308360 0.00012
NM_020751.3(COG6):c.1021A>T (p.Asn341Tyr) rs201922229 0.00011
NM_020751.3(COG6):c.730G>A (p.Val244Ile) rs147560202 0.00011
NM_020751.3(COG6):c.1891G>A (p.Val631Met) rs143909067 0.00010
NM_020751.3(COG6):c.1760G>A (p.Arg587His) rs191156299 0.00009
NM_020751.3(COG6):c.1415A>G (p.Gln472Arg) rs756742630 0.00008
NM_020751.3(COG6):c.1149T>G (p.Phe383Leu) rs886050227 0.00005
NM_020751.3(COG6):c.1738G>A (p.Ala580Thr) rs773262760 0.00004
NM_020751.3(COG6):c.556C>A (p.Leu186Met) rs781524524 0.00004
NM_020751.3(COG6):c.1961C>T (p.Thr654Met) rs747232819 0.00003
NM_020751.3(COG6):c.119A>G (p.His40Arg) rs148246113 0.00002
NM_020751.3(COG6):c.134C>T (p.Thr45Met) rs545371712 0.00002
NM_020751.3(COG6):c.1484C>G (p.Ala495Gly) rs746119230 0.00002
NM_020751.3(COG6):c.1892dup (p.Met632fs) rs1486717174 0.00002
NM_020751.3(COG6):c.1009+6T>C rs752382409 0.00001
NM_020751.3(COG6):c.1247A>G (p.Asn416Ser) rs756614480 0.00001
NM_020751.3(COG6):c.697G>A (p.Glu233Lys) rs745501973 0.00001
NM_020751.3(COG6):c.868C>T (p.Pro290Ser) rs748959066 0.00001
NM_020751.3(COG6):c.920A>G (p.Tyr307Cys) rs754624882 0.00001
NM_020751.3(COG6):c.1036G>A (p.Val346Ile) rs1876874289
NM_020751.3(COG6):c.1043A>G (p.His348Arg) rs2138012022
NM_020751.3(COG6):c.1105C>T (p.Pro369Ser)
NM_020751.3(COG6):c.1286T>C (p.Val429Ala)
NM_020751.3(COG6):c.1426T>C (p.Cys476Arg)
NM_020751.3(COG6):c.172A>G (p.Lys58Glu)
NM_020751.3(COG6):c.1746+2T>G rs1555280464
NM_020751.3(COG6):c.1826+3A>C rs768907183
NM_020751.3(COG6):c.1883A>G (p.Tyr628Cys)
NM_020751.3(COG6):c.1910A>C (p.Glu637Ala) rs1284095057
NM_020751.3(COG6):c.1941_1944del (p.Ser648fs)
NM_020751.3(COG6):c.203G>A (p.Ser68Asn)
NM_020751.3(COG6):c.26T>A (p.Val9Asp) rs2137932050
NM_020751.3(COG6):c.299A>T (p.Glu100Val) rs866336771
NM_020751.3(COG6):c.535A>G (p.Thr179Ala) rs1322763277
NM_020751.3(COG6):c.53A>G (p.Asn18Ser) rs2137932213
NM_020751.3(COG6):c.695G>A (p.Ser232Asn) rs780879386
NM_020751.3(COG6):c.70G>T (p.Ala24Ser) rs539907116
NM_020751.3(COG6):c.739G>A (p.Val247Ile)
NM_020751.3(COG6):c.766C>A (p.Gln256Lys)
NM_020751.3(COG6):c.788+5G>A
NM_020751.3(COG6):c.80C>G (p.Thr27Ser) rs776763438
NM_020751.3(COG6):c.851C>T (p.Ala284Val) rs148869108
NM_020751.3(COG6):c.871G>A (p.Gly291Arg)
NM_020751.3(COG6):c.956C>T (p.Thr319Ile) rs1428739783
NM_020751.3(COG6):c.989T>C (p.Leu330Ser) rs1876747862
NM_020751.3(COG6):c.9G>C (p.Glu3Asp) rs1016478271

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