ClinVar Miner

List of variants in gene TACSTD2 studied for corneal disorder

Included ClinVar conditions (75):
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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_002353.3(TACSTD2):c.*280T>C rs3551 0.44624
NM_002353.3(TACSTD2):c.*637G>A rs7333 0.26328
NM_002353.3(TACSTD2):c.*202A>G rs41313363 0.14784
NM_002353.3(TACSTD2):c.-54A>C rs232835 0.14512
NM_002353.3(TACSTD2):c.648C>A (p.Asp216Glu) rs14008 0.14507
NM_002353.3(TACSTD2):c.*421A>G rs9583 0.12260
NM_002353.3(TACSTD2):c.518A>C (p.Asp173Ala) rs35075952 0.12227
NM_002353.3(TACSTD2):c.*48G>A rs41311174 0.07841
NM_002353.3(TACSTD2):c.441G>C (p.Glu147Asp) rs1062964 0.04957
NM_002353.3(TACSTD2):c.828C>T (p.Gly276=) rs12121124 0.03674
NM_002353.3(TACSTD2):c.889A>G (p.Ile297Val) rs114373153 0.02577
NM_002353.3(TACSTD2):c.*226C>A rs80012655 0.02262
NM_002353.3(TACSTD2):c.-1C>A rs232836 0.00863
NM_002353.3(TACSTD2):c.*166C>T rs7355042 0.00815
NM_002353.3(TACSTD2):c.*396T>C rs41313365 0.00488
NM_002353.3(TACSTD2):c.*281A>C rs181672295 0.00134
NM_002353.3(TACSTD2):c.*751C>A rs570481691 0.00113
NM_002353.3(TACSTD2):c.*98C>T rs72672295 0.00086
NM_002353.3(TACSTD2):c.*94G>A rs182546579 0.00079
NM_002353.3(TACSTD2):c.762G>A (p.Glu254=) rs144787622 0.00079
NM_002353.3(TACSTD2):c.-56C>G rs774270086 0.00061
NM_002353.3(TACSTD2):c.899G>A (p.Arg300Gln) rs142263208 0.00044
NM_002353.2(TACSTD2):c.-314G>A rs546965754 0.00030
NM_002353.3(TACSTD2):c.735C>T (p.Arg245=) rs145491347 0.00011
NM_002353.3(TACSTD2):c.720C>A (p.Gly240=) rs762401640 0.00009
NM_002353.2(TACSTD2):c.-104C>G rs886046457 0.00006
NM_002353.3(TACSTD2):c.257C>G (p.Ala86Gly) rs772658288 0.00006
NM_002353.2(TACSTD2):c.-241C>G rs942445556 0.00004
NM_002353.3(TACSTD2):c.827G>A (p.Gly276Asp) rs769179472 0.00004
NM_002353.3(TACSTD2):c.8G>C (p.Arg3Pro) rs1041904445 0.00004
NM_002353.3(TACSTD2):c.*656T>A rs181590097 0.00003
NM_002353.3(TACSTD2):c.175G>A (p.Gly59Ser) rs777212159 0.00003
NM_002353.3(TACSTD2):c.*59A>C rs886046456 0.00001
NM_002353.3(TACSTD2):c.*6C>T rs749221434 0.00001
NM_002353.3(TACSTD2):c.352C>T (p.Gln118Ter) rs80358223 0.00001
NM_002353.2(TACSTD2):c.-112G>A rs1646892722
NM_002353.2(TACSTD2):c.-160C>G rs977480107
NM_002353.2(TACSTD2):c.-169G>A rs61779294
NM_002353.2(TACSTD2):c.-199G>A rs562217606
NM_002353.2(TACSTD2):c.-269G>C rs886046458
NM_002353.3(TACSTD2):c.*236C>G rs1646876980
NM_002353.3(TACSTD2):c.*298A>C rs866363830
NM_002353.3(TACSTD2):c.*565G>T rs528472691
NM_002353.3(TACSTD2):c.*645T>C rs1570021538
NM_002353.3(TACSTD2):c.-56C>T rs774270086
NM_002353.3(TACSTD2):c.140_148del (p.Asp47_Pro49del)
NM_002353.3(TACSTD2):c.2T>G (p.Met1Arg) rs80358226
NM_002353.3(TACSTD2):c.355T>A (p.Cys119Ser) rs80358227
NM_002353.3(TACSTD2):c.509C>A (p.Ser170Ter) rs80358225
NM_002353.3(TACSTD2):c.557T>C (p.Leu186Pro) rs80358228
NM_002353.3(TACSTD2):c.619C>T (p.Gln207Ter) rs80358224
NM_002353.3(TACSTD2):c.632del (p.Gln211fs) rs1569579635
NM_002353.3(TACSTD2):c.653del (p.Asp218fs) rs780819073
NM_002353.3(TACSTD2):c.679G>A (p.Glu227Lys)
NM_002353.3(TACSTD2):c.772_783delinsT (p.Leu257_Ile258insTer)

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