ClinVar Miner

List of variants reported as pathogenic for cataract 15 multiple types

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
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.508dup (p.Leu170fs) rs1057519616
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.97C>T (p.Arg33Cys) rs864309693

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