ClinVar Miner

List of variants reported as likely benign for Corneal dystrophy

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_207352.4(CYP4V2):c.*1638G>A rs72646300 0.07687
NM_001174089.2(SLC4A11):c.2451G>A (p.Thr817=) rs58757394 0.05831
NM_207352.4(CYP4V2):c.327+11G>C rs62350517 0.05079
NM_207352.4(CYP4V2):c.823G>A (p.Glu275Lys) rs34745240 0.03921
NM_207352.4(CYP4V2):c.638G>A (p.Ser213Asn) rs34331648 0.02714
NM_207352.4(CYP4V2):c.1091-4T>A rs61748269 0.01211
NM_207352.4(CYP4V2):c.1536C>T (p.Gly512=) rs72646298 0.01209
NM_001174089.2(SLC4A11):c.*225C>T rs77978636 0.01139
NM_207352.4(CYP4V2):c.-128A>G rs531909464 0.01113
NM_207352.4(CYP4V2):c.*2106G>T rs72646302 0.01061
NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile) rs34224785 0.00886
NM_000358.3(TGFBI):c.1486C>G (p.Arg496Gly) rs10057190 0.00561
NM_000358.3(TGFBI):c.2012-5T>C rs147650812 0.00405
NM_000358.3(TGFBI):c.1645G>A (p.Ala549Thr) rs202066916 0.00139
NM_000358.3(TGFBI):c.1377C>T (p.Gly459=) rs190191005 0.00122
NM_000358.3(TGFBI):c.1749C>T (p.Ile583=) rs35909506 0.00104
NM_000358.3(TGFBI):c.1992C>T (p.Ser664=) rs199781494 0.00064
NM_000358.3(TGFBI):c.805C>T (p.Leu269Phe) rs199852470 0.00058
NM_001174089.2(SLC4A11):c.1890G>A (p.Ala630=) rs376848818 0.00006
NM_207352.4(CYP4V2):c.*2303G>C rs576134216 0.00006
NM_000358.3(TGFBI):c.*395C>A rs558406262 0.00001
NM_000358.3(TGFBI):c.1265-11C>T rs145873615
NM_000358.3(TGFBI):c.1584G>A (p.Thr528=) rs552261238

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