ClinVar Miner

List of variants studied for Exudative vitreoretinopathy 5

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_012338.4(TSPAN12):c.*39C>T rs41622 0.76971
NM_012338.4(TSPAN12):c.361-34C>T rs7805733 0.76668
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.667C>A (p.Leu223Met) rs754107565 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.146C>T (p.Thr49Met) rs538591733 0.00001
NM_012338.4(TSPAN12):c.301dup (p.Leu101fs) rs1407226293 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.562G>C (p.Gly188Arg) rs267607151 0.00001
NM_012338.4(TSPAN12):c.734T>C (p.Leu245Pro) rs200519776 0.00001
C181F
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
NM_012338.4(TSPAN12):c.11_14dup (p.Asp5fs)
NM_012338.4(TSPAN12):c.176_179del (p.Tyr59fs) rs1278815943
NM_012338.4(TSPAN12):c.212_218dup (p.Phe73fs) rs1554403626
NM_012338.4(TSPAN12):c.214T>C (p.Cys72Arg) rs2116466534
NM_012338.4(TSPAN12):c.277C>T (p.Leu93Phe)
NM_012338.4(TSPAN12):c.283T>C (p.Trp95Arg)
NM_012338.4(TSPAN12):c.285+1G>A rs587777285
NM_012338.4(TSPAN12):c.302T>A (p.Leu101His) rs267607152
NM_012338.4(TSPAN12):c.313T>C (p.Cys105Arg)
NM_012338.4(TSPAN12):c.32G>A (p.Arg11His)
NM_012338.4(TSPAN12):c.345T>G (p.Tyr115Ter) rs1437503069
NM_012338.4(TSPAN12):c.361-5_361-1del rs794726655
NM_012338.4(TSPAN12):c.413A>G (p.Tyr138Cys) rs587777283
NM_012338.4(TSPAN12):c.419T>A (p.Leu140Ter) rs267607153
NM_012338.4(TSPAN12):c.459dup (p.Gln154fs) rs1793956510
NM_012338.4(TSPAN12):c.476G>T (p.Cys159Phe) rs2116348690
NM_012338.4(TSPAN12):c.502T>C (p.Trp168Arg)
NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe) rs878853243
NM_012338.4(TSPAN12):c.566G>A (p.Cys189Tyr) rs1335735639
NM_012338.4(TSPAN12):c.612+1G>T rs2116347776
NM_012338.4(TSPAN12):c.66+1del
NM_012338.4(TSPAN12):c.67-1G>C rs587777284
NM_012338.4(TSPAN12):c.67-2A>G rs1057518477
NM_012338.4(TSPAN12):c.709G>C (p.Ala237Pro) rs267607154

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