ClinVar Miner

List of variants reported as not provided for corneal disorder

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513 0.00081
NM_000494.4(COL17A1):c.3739C>T (p.Arg1247Trp) rs144220426 0.00036
NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser) rs537085488 0.00006
NM_001367624.2(ZNF469):c.3332T>C (p.Phe1111Ser) rs765069829 0.00004
NM_001367624.2(ZNF469):c.1268C>T (p.Pro423Leu) rs1214168989 0.00001
NM_001367624.2(ZNF469):c.713C>T (p.Ala238Val)
NM_001367624.2(ZNF469):c.8048G>A (p.Gly2683Glu) rs912981227
NM_001920.5(DCN):c.1036T>G (p.Cys346Gly)
NM_001920.5(DCN):c.941del (p.Pro314fs) rs80338742
NM_001920.5(DCN):c.947del (p.Gly316fs) rs397515545
NM_001920.5(DCN):c.962del (p.Lys321fs) rs587777258
NM_001920.5(DCN):c.967del (p.Ser323fs) rs80338741
NM_018699.4(PRDM5):c.1208C>G (p.Pro403Arg) rs769647986
NM_033004.4(NLRP1):c.2043G>T (p.Glu681Asp) rs146030920

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