ClinVar Miner

List of variants in gene TGFBI studied for corneal disorder

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_000358.3(TGFBI):c.1620T>C (p.Phe540=) rs4669 0.38557
NM_000358.3(TGFBI):c.651G>C (p.Leu217=) rs1442 0.36069
NM_000358.3(TGFBI):c.981A>G (p.Val327=) rs1054124 0.35276
NM_000358.3(TGFBI):c.*537T>G rs4572 0.33766
NM_000358.3(TGFBI):c.1416C>T (p.Leu472=) rs1133170 0.27861
NM_000358.3(TGFBI):c.*267C>A rs17169782 0.03306
NM_000358.3(TGFBI):c.1803G>A (p.Leu601=) rs35151677 0.02232
NM_000358.3(TGFBI):c.1411-3C>T rs11242308 0.02094
NM_000358.3(TGFBI):c.*458G>A rs7854 0.01047
NM_000358.3(TGFBI):c.1027A>G (p.Met343Val) rs35920018 0.00652
NM_000358.3(TGFBI):c.816C>T (p.Asn272=) rs34334509 0.00623
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.134+14C>A rs529657143 0.00294
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.1998G>C (p.Arg666Ser) rs121909217 0.00103
NM_000358.3(TGFBI):c.1083C>T (p.Asn361=) rs199645034 0.00064
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_000358.3(TGFBI):c.678C>T (p.Asn226=) rs369362360 0.00057
NM_000358.3(TGFBI):c.1312C>T (p.His438Tyr) rs148555720 0.00056
NM_000358.3(TGFBI):c.141C>T (p.Asn47=) rs368854767 0.00056
NM_000358.3(TGFBI):c.895G>A (p.Asp299Asn) rs202239395 0.00051
NM_000358.3(TGFBI):c.852C>A (p.Ala284=) rs189359867 0.00041
NM_000358.3(TGFBI):c.*462C>G rs925448179 0.00035
NM_000358.3(TGFBI):c.1540C>T (p.Arg514Cys) rs200065806 0.00035
NM_000358.3(TGFBI):c.1676T>G (p.Leu559Trp) rs200219644 0.00034
NM_000358.3(TGFBI):c.1061A>G (p.Asn354Ser) rs201158209 0.00029
NM_000358.3(TGFBI):c.*119G>A rs142145618 0.00024
NM_000358.3(TGFBI):c.968C>T (p.Ala323Val) rs201210696 0.00022
NM_000358.3(TGFBI):c.1000A>G (p.Thr334Ala) rs201709971 0.00021
NM_000358.3(TGFBI):c.1741G>A (p.Gly581Arg) rs200887459 0.00021
NM_000358.3(TGFBI):c.*72T>C rs373984033 0.00013
NM_000358.3(TGFBI):c.1439C>T (p.Ala480Val) rs192398905 0.00013
NM_000358.3(TGFBI):c.1643G>A (p.Arg548Gln) rs138125037 0.00011
NM_000358.3(TGFBI):c.*40C>T rs376033284 0.00010
NM_000358.3(TGFBI):c.1291A>G (p.Thr431Ala) rs554088498 0.00006
NM_000358.3(TGFBI):c.1513G>A (p.Val505Ile) rs201775031 0.00006
NM_000358.3(TGFBI):c.739A>C (p.Ile247Leu) rs370262564 0.00006
NM_000358.3(TGFBI):c.1631A>G (p.Asn544Ser) rs777288957 0.00005
NM_000358.3(TGFBI):c.371G>A (p.Arg124His) rs121909211 0.00003
NM_000358.3(TGFBI):c.393G>T (p.Glu131Asp) rs199604416 0.00003
NM_000358.3(TGFBI):c.1406G>A (p.Arg469His) rs376761086 0.00002
NM_000358.3(TGFBI):c.*355A>G rs1458386992 0.00001
NM_000358.3(TGFBI):c.*395C>A rs558406262 0.00001
NM_000358.3(TGFBI):c.*534G>T rs1284276296 0.00001
NM_000358.3(TGFBI):c.1454G>A (p.Arg485Lys) rs539008520 0.00001
NM_000358.3(TGFBI):c.273C>T (p.Val91=) rs759976271 0.00001
NM_000358.3(TGFBI):c.321C>T (p.Tyr107=) rs761942644 0.00001
NM_000358.3(TGFBI):c.334G>A (p.Val112Ile) rs766343295 0.00001
NM_000358.3(TGFBI):c.348C>A (p.Thr116=) rs886059923 0.00001
NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys) rs121909210 0.00001
NM_000358.3(TGFBI):c.387G>C (p.Arg129Ser) rs765026368 0.00001
NM_000358.3(TGFBI):c.459+14C>T rs200273594 0.00001
NM_000358.3(TGFBI):c.969G>A (p.Ala323=) rs533421485 0.00001
NM_000358.2(TGFBI):c.[1637C>A;1652C>A]
NM_000358.3(TGFBI):c.*21A>G rs886059928
NM_000358.3(TGFBI):c.*551A>G rs886059929
NM_000358.3(TGFBI):c.1265-11C>A rs145873615
NM_000358.3(TGFBI):c.1265-11C>T rs145873615
NM_000358.3(TGFBI):c.1284T>A (p.Asp428Glu) rs886059927
NM_000358.3(TGFBI):c.1405C>T (p.Arg469Cys) rs759370852
NM_000358.3(TGFBI):c.1471del (p.Leu491fs) rs1561613851
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr) rs121909212
NM_000358.3(TGFBI):c.1501C>T (p.Pro501Ser) rs121909212
NM_000358.3(TGFBI):c.1504A>G (p.Met502Val) rs188677757
NM_000358.3(TGFBI):c.1517_1518insCAAGGG (p.Met506delinsIleLysGly)
NM_000358.3(TGFBI):c.1526T>G (p.Leu509Arg) rs121909216
NM_000358.3(TGFBI):c.1584G>A (p.Thr528=) rs552261238
NM_000358.3(TGFBI):c.1611C>T (p.Tyr537=) rs1751639731
NM_000358.3(TGFBI):c.1612A>C (p.Thr538Pro) rs2126915354
NM_000358.3(TGFBI):c.1618_1620del (p.Phe540del) rs2126915359
NM_000358.3(TGFBI):c.1619T>C (p.Phe540Ser) rs121909214
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) rs121909208
NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln) rs121909209
NM_000358.3(TGFBI):c.1772C>A (p.Ser591Tyr) rs1751703312
NM_000358.3(TGFBI):c.1855A>G (p.Met619Val) rs2126917684
NM_000358.3(TGFBI):c.1864A>C (p.Asn622His) rs2126917690
NM_000358.3(TGFBI):c.1868G>A (p.Gly623Asp) rs121909215
NM_000358.3(TGFBI):c.1949C>T (p.Ala650Val) rs188333040
NM_000358.3(TGFBI):c.2001T>C (p.Ser667=) rs760016493
NM_000358.3(TGFBI):c.2040G>C (p.Arg680Ser) rs762051168
NM_000358.3(TGFBI):c.283A>G (p.Lys95Glu) rs886059922
NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser) rs121909210
NM_000358.3(TGFBI):c.371G>T (p.Arg124Leu) rs121909211
NM_000358.3(TGFBI):c.535C>T (p.Arg179Ter) rs886059924
NM_000358.3(TGFBI):c.675C>A (p.Thr225=) rs886059925
NM_000358.3(TGFBI):c.721A>G (p.Asn241Asp) rs886059926
NM_000358.3(TGFBI):c.820C>T (p.Gln274Ter) rs1561611210

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