ClinVar Miner

List of variants reported as uncertain significance for cataract 19 multiple types by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001161748.2(LIM2):c.502C>T (p.Arg168Cys) rs150085001 0.00056
NM_003380.5(VIM):c.911G>A (p.Arg304Gln) rs552165238 0.00021
NM_001161748.2(LIM2):c.380T>C (p.Leu127Pro) rs142111893 0.00019
NM_001161748.2(LIM2):c.281G>A (p.Arg94His) rs770425768 0.00018
NM_001161748.2(LIM2):c.334G>A (p.Val112Ile) rs142030761 0.00014
NM_001161748.2(LIM2):c.193C>T (p.Arg65Trp) rs139154341 0.00008
NM_003380.5(VIM):c.758A>G (p.His253Arg) rs773762488 0.00004
NM_001161748.2(LIM2):c.175+87A>G rs369343996 0.00001
NM_003380.5(VIM):c.134G>A (p.Arg45His) rs778098458 0.00001
NM_003380.5(VIM):c.167C>A (p.Ser56Tyr) rs773938980 0.00001
NM_001161748.2(LIM2):c.175+46G>A rs1987086753
NM_001161748.2(LIM2):c.321del (p.Ser108fs) rs1986917705
NM_001161748.2(LIM2):c.356A>G (p.Tyr119Cys)
NM_001161748.2(LIM2):c.420C>A (p.Tyr140Ter) rs1212925287
NM_001161748.2(LIM2):c.440T>C (p.Val147Ala)
NM_001161748.2(LIM2):c.487G>A (p.Val163Met)
NM_003380.5(VIM):c.1024C>G (p.Arg342Gly)
NM_003380.5(VIM):c.1372A>G (p.Thr458Ala)
NM_003380.5(VIM):c.1374_1375dup (p.Ser459fs) rs1846907790
NM_003380.5(VIM):c.451GAG[2] (p.Glu153del)
NM_003380.5(VIM):c.468G>C (p.Glu156Asp) rs1846752790
NM_003380.5(VIM):c.598G>C (p.Glu200Gln) rs1037734535
NM_003380.5(VIM):c.626A>G (p.Asp209Gly)
NM_003380.5(VIM):c.814G>A (p.Val272Ile)
NM_003380.5(VIM):c.82C>G (p.Arg28Gly)

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