ClinVar Miner

List of variants reported for Brittle cornea syndrome 1 by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=) rs9924504 0.99996
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg) rs1983014 0.99622
NM_001367624.2(ZNF469):c.1529G>C (p.Gly510Ala) rs7199961 0.99603
NM_001367624.2(ZNF469):c.11856C>T (p.Ser3952=) rs4782362 0.98833
NM_001367624.2(ZNF469):c.5661C>G (p.Thr1887=) rs9931465 0.89293
NM_001367624.2(ZNF469):c.3522G>A (p.Pro1174=) rs9938800 0.89252
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu) rs4782300 0.87223
NM_001367624.2(ZNF469):c.1776A>G (p.Pro592=) rs12927001 0.86712
NM_001367624.2(ZNF469):c.4419T>G (p.Ser1473=) rs12445417 0.85761
NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser) rs11640794 0.84448
NM_001367624.2(ZNF469):c.3568A>G (p.Lys1190Glu) rs7197071 0.80067
NM_001367624.2(ZNF469):c.11757A>G (p.Pro3919=) rs4782301 0.77860
NM_001367624.2(ZNF469):c.2130T>C (p.Pro710=) rs12918876 0.60216
NM_001367624.2(ZNF469):c.10972G>C (p.Glu3658Gln) rs1105066 0.44478
NM_001367624.2(ZNF469):c.8604C>T (p.Arg2868=) rs3812953 0.43642
NM_001367624.2(ZNF469):c.7156G>C (p.Gly2386Arg) rs12598474 0.36151
NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln) rs3812956 0.32763
NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro) rs11648572

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