ClinVar Miner

List of variants in gene MIP reported as uncertain significance for cataract

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
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.*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.*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.*1237_*1238dup rs111463603
NM_012064.4(MIP):c.*1262C>G rs1868534260
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.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.560G>T (p.Arg187Leu) rs759746926

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