ClinVar Miner

List of variants studied for TSPAN12-related vitreoretinopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_012338.4(TSPAN12):c.*39C>T rs41622 0.76971
NM_012338.4(TSPAN12):c.765G>T (p.Pro255=) rs41623 0.76026
NM_012338.4(TSPAN12):c.360+9A>G rs116938497 0.00772
NM_012338.4(TSPAN12):c.*1270T>G rs147549883 0.00424
NM_012338.4(TSPAN12):c.*1139A>T rs192303288 0.00150
NM_012338.4(TSPAN12):c.*334A>T rs545129654 0.00128
NM_012338.4(TSPAN12):c.367G>C (p.Val123Leu) rs145676655 0.00079
NM_012338.4(TSPAN12):c.*998G>A rs182626886 0.00069
NM_012338.4(TSPAN12):c.-246T>G rs545477642 0.00056
NM_012338.4(TSPAN12):c.-43G>A rs377745738 0.00019
NM_012338.4(TSPAN12):c.*40T>C rs375824224 0.00010
NM_012338.4(TSPAN12):c.*1243A>T rs189221112 0.00007
NM_012338.4(TSPAN12):c.-214G>A rs886061960 0.00007
NM_012338.4(TSPAN12):c.*329G>A rs1019599323 0.00006
NM_012338.4(TSPAN12):c.*103C>A rs886061957 0.00004
NM_012338.4(TSPAN12):c.*104C>A rs1331859165 0.00004
NM_012338.4(TSPAN12):c.*126T>C rs1480438432 0.00004
NM_012338.4(TSPAN12):c.-232C>T rs1429365486 0.00004
NM_012338.4(TSPAN12):c.825A>G (p.Ser275=) rs137971071 0.00004
NM_012338.4(TSPAN12):c.-215G>T rs1033504453 0.00003
NM_012338.4(TSPAN12):c.147G>A (p.Thr49=) rs746696379 0.00002
NM_012338.4(TSPAN12):c.484G>A (p.Val162Ile) rs774728139 0.00002
NM_012338.4(TSPAN12):c.-102G>A rs886061959 0.00001
NM_012338.4(TSPAN12):c.-127G>T rs541379054 0.00001
NM_012338.4(TSPAN12):c.-151A>C rs1278836842 0.00001
NM_012338.4(TSPAN12):c.304G>T (p.Val102Phe) rs777946907 0.00001
NM_012338.4(TSPAN12):c.457T>C (p.Phe153Leu) rs886061958 0.00001
NM_012338.4(TSPAN12):c.*1240A>G rs1793428871
NM_012338.4(TSPAN12):c.*553C>G rs886061956
NM_012338.4(TSPAN12):c.*887C>G rs763409914
NM_012338.4(TSPAN12):c.-169T>A rs935463879
NM_012338.4(TSPAN12):c.-277C>T rs549451459
NM_012338.4(TSPAN12):c.-314G>C rs886061963
NM_012338.4(TSPAN12):c.-314G>T rs886061963

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