ClinVar Miner

List of variants studied for early-onset partial cataract by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_003380.5(VIM):c.451G>A (p.Glu151Lys) rs121917775 0.00003
NM_024513.4(FYCO1):c.2206C>T (p.Gln736Ter) rs387906964 0.00002
NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp) rs387907338 0.00001
NM_024513.4(FYCO1):c.3150+1G>T rs766522434 0.00001
NM_001289808.2(CRYAB):c.418G>A (p.Asp140Asn) rs387907336
NM_001289808.2(CRYAB):c.450del (p.Lys150fs) rs1566402656
NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser) rs387907337
NM_003380.5(VIM):c.15del (p.Val6fs) rs864309690
NM_003380.5(VIM):c.623A>G (p.Gln208Arg) rs1085307141
NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly) rs398123066
NM_024513.4(FYCO1):c.1045C>T (p.Gln349Ter) rs387906963
NM_024513.4(FYCO1):c.1546C>T (p.Gln516Ter) rs387906966
NM_024513.4(FYCO1):c.3858_3862dup (p.Leu1288fs) rs1240503246
NM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro) rs387906965

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