ClinVar Miner

List of variants in gene CHMP4B studied for cataract

Included ClinVar conditions (65):
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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_176812.5(CHMP4B):c.558C>T (p.Pro186=) rs79766928 0.00784
NM_176812.5(CHMP4B):c.191-5C>T rs377095745 0.00006
NM_176812.5(CHMP4B):c.240G>A (p.Ala80=) rs774485925 0.00003
NM_176812.5(CHMP4B):c.586T>G (p.Ser196Ala) rs765835212 0.00003
NM_176812.5(CHMP4B):c.200A>G (p.Gln67Arg)
NM_176812.5(CHMP4B):c.270G>A (p.Glu90=)
NM_176812.5(CHMP4B):c.310G>A (p.Glu104Lys)
NM_176812.5(CHMP4B):c.368+15G>A rs199832068
NM_176812.5(CHMP4B):c.386A>T (p.Asp129Val) rs118203965
NM_176812.5(CHMP4B):c.450G>A (p.Ser150=)
NM_176812.5(CHMP4B):c.481G>A (p.Glu161Lys) rs118203966
NM_176812.5(CHMP4B):c.481G>C (p.Glu161Gln) rs118203966

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