ClinVar Miner

List of variants studied for brittle cornea syndrome by Baylor Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met) rs375045076 0.00255
NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr) rs199932922 0.00092
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513 0.00081
NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro) rs529250336 0.00011
NM_001367624.2(ZNF469):c.11164G>A (p.Ala3722Thr) rs549874193 0.00008
NM_001367624.2(ZNF469):c.4258G>A (p.Glu1420Lys) rs387907063 0.00005
NM_001367624.2(ZNF469):c.10420C>T (p.Arg3474Trp) rs1394199246 0.00003
NM_001367624.2(ZNF469):c.10811C>T (p.Pro3604Leu) rs957402222 0.00001
NM_001367624.2(ZNF469):c.3482C>A (p.Ser1161Tyr) rs903409672 0.00001
NM_001367624.2(ZNF469):c.5297G>A (p.Arg1766Gln) rs571207087 0.00001
NM_001367624.2(ZNF469):c.6978CTC[1] (p.Ser2328del) rs1215843229
NM_001367624.2(ZNF469):c.8438C>A (p.Thr2813Asn) rs985304000
NM_001367624.2(ZNF469):c.9473T>C (p.Leu3158Pro) rs1906626370
NM_018699.4(PRDM5):c.898T>C (p.Cys300Arg)

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