ClinVar Miner

List of variants in gene MIP studied for cataract

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_012064.4(MIP):c.*94T>G rs2935008 0.97210
NM_012064.4(MIP):c.*505T>C rs774053 0.83411
NM_012064.4(MIP):c.*1171C>A rs2371455 0.37529
NM_012064.4(MIP):c.*715G>A rs3809125 0.32150
NM_012064.4(MIP):c.*615A>G rs17118657 0.04797
NM_012064.4(MIP):c.319G>A (p.Val107Ile) rs74641138 0.01986
NM_012064.4(MIP):c.-10C>A rs61759527 0.01631
NM_012064.4(MIP):c.*284T>C rs148601602 0.01399
NM_012064.4(MIP):c.*762_*763del rs3840772 0.00934
NM_012064.4(MIP):c.*774G>C rs66826398 0.00894
NM_012064.4(MIP):c.*407A>G rs72478920 0.00559
NM_012064.4(MIP):c.-4T>C rs117788190 0.00325
NM_012064.4(MIP):c.*1104T>A rs72478921 0.00239
NM_012064.4(MIP):c.516C>T (p.His172=) rs36032520 0.00232
NM_012064.4(MIP):c.*491A>C rs137926387 0.00222
NM_012064.4(MIP):c.199G>A (p.Val67Ile) rs77163805 0.00215
NM_012064.4(MIP):c.*799A>G rs140453442 0.00210
NM_012064.4(MIP):c.*32T>C rs185699444 0.00022
NM_012064.4(MIP):c.*969G>A rs543075454 0.00018
NM_012064.4(MIP):c.*601G>A rs565229690 0.00013
NM_012064.4(MIP):c.378C>T (p.Ser126=) rs35033450 0.00013
NM_012064.4(MIP):c.490G>A (p.Val164Ile) rs149279854 0.00011
NM_012064.4(MIP):c.*674G>A rs150155933 0.00009
NM_012064.4(MIP):c.713A>C (p.Lys238Thr) rs755752015 0.00009
NM_012064.4(MIP):c.*1495T>C rs769951572 0.00007
NM_012064.4(MIP):c.*132del rs886049691 0.00005
NM_012064.4(MIP):c.*136T>G rs1481521864 0.00003
NM_012064.4(MIP):c.*542C>T rs1400800798 0.00003
NM_012064.4(MIP):c.*955G>A rs1043213686 0.00003
NM_012064.4(MIP):c.*49G>A rs746044208 0.00002
NM_012064.4(MIP):c.*793C>A rs891386760 0.00002
NM_012064.4(MIP):c.424G>A (p.Val142Met) rs966166555 0.00002
NM_012064.4(MIP):c.*661C>T rs1470004718 0.00001
NM_012064.4(MIP):c.119A>G (p.His40Arg) rs1436119727 0.00001
NM_012064.4(MIP):c.361-10C>T rs886049693 0.00001
NM_012064.4(MIP):c.694G>C (p.Glu232Gln) rs773085032 0.00001
NM_012064.4(MIP):c.*1103C>T rs886049689
NM_012064.4(MIP):c.*1201ATT[2] rs540359096
NM_012064.4(MIP):c.*1237_*1238dup rs111463603
NM_012064.4(MIP):c.*1238dup rs111463603
NM_012064.4(MIP):c.*1262C>G rs1868534260
NM_012064.4(MIP):c.*1373A>G rs181959264
NM_012064.4(MIP):c.*148del rs35639464
NM_012064.4(MIP):c.*148dup rs35639464
NM_012064.4(MIP):c.*1777dup rs886049688
NM_012064.4(MIP):c.*342C>T rs886049690
NM_012064.4(MIP):c.*957G>A rs924408819
NM_012064.4(MIP):c.-26C>A rs1172594016
NM_012064.4(MIP):c.172T>G (p.Ser58Ala)
NM_012064.4(MIP):c.323C>T (p.Thr108Ile) rs760722691
NM_012064.4(MIP):c.401A>G (p.Glu134Gly) rs121917869
NM_012064.4(MIP):c.413C>G (p.Thr138Arg) rs121917867
NM_012064.4(MIP):c.433A>C (p.Ile145Leu) rs1868692984
NM_012064.4(MIP):c.458G>A (p.Arg153Gln)
NM_012064.4(MIP):c.493G>A (p.Gly165Ser) rs886049692
NM_012064.4(MIP):c.506C>A (p.Ala169Asp) rs1868688639
NM_012064.4(MIP):c.508dup (p.Leu170fs) rs1057519616
NM_012064.4(MIP):c.525+1G>A rs1868687508
NM_012064.4(MIP):c.559del (p.Arg187fs)
NM_012064.4(MIP):c.560G>T (p.Arg187Leu) rs759746926
NM_012064.4(MIP):c.606+1G>C rs1220143491
NM_012064.4(MIP):c.606+1G>T
NM_012064.4(MIP):c.616_632del (p.Val206fs)
NM_012064.4(MIP):c.623del (p.Pro208fs) rs1555179713
NM_012064.4(MIP):c.638del (p.Gly213fs) rs398122378
NM_012064.4(MIP):c.714G>A (p.Lys238=)
NM_012064.4(MIP):c.97C>T (p.Arg33Cys) rs864309693
NM_012064.4(MIP):c.98G>A (p.Arg33His) rs139963297

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