ClinVar Miner

List of variants in gene TACSTD2 reported as benign for corneal dystrophy

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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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.899G>A (p.Arg300Gln) rs142263208 0.00044
NM_002353.2(TACSTD2):c.-169G>A rs61779294
NM_002353.3(TACSTD2):c.*565G>T rs528472691

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