ClinVar Miner

List of variants reported as uncertain significance for corneal disorder by Institute of Human Genetics, Polish Academy of Sciences

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001395010.1(DAB2IP):c.2759C>T (p.Pro920Leu) rs765361316 0.00003
NM_001466.4(FZD2):c.1238G>A (p.Arg413Gln) rs758351214 0.00002
NM_138959.3(VANGL1):c.41C>T (p.Ser14Leu) rs1202230056 0.00001
NC_000004.12:g.69391612A>G
NC_000007.14:g.129126742_129126748del
NC_000007.14:g.142581165C>G
NC_000014.9:g.22007907C>T
NC_000014.9:g.22007908A>C
NM_001042492.3(NF1):c.5257G>C (p.Val1753Leu) rs148540952
NM_001282426.2(PIK3CG):c.711del (p.Asp238fs) rs767360862
NM_001303264.2(TSC22D2):c.1702G>T (p.Ala568Ser)
NM_001304359.2(MUC5AC):c.10301C>T (p.Pro3434Leu)
NM_001304359.2(MUC5AC):c.3601C>T (p.Arg1201Trp)
NM_001304359.2(MUC5AC):c.5459G>A (p.Arg1820Gln)
NM_001351365.2(NBPF19):c.11302C>G (p.Leu3768Val)
NM_001355281.2(NANOGP8):c.190G>T (p.Asp64Tyr)
NM_001395430.1(PAK6):c.1855C>A (p.Pro619Thr) rs1407997977
NM_002336.3(LRP6):c.4822C>T (p.Pro1608Ser) rs1565521308
NM_004289.7(NFE2L3):c.932A>G (p.Gln311Arg)
NM_005430.4(WNT1):c.1063G>T (p.Val355Phe) rs387907358
NM_005605.5(PPP3CC):c.1199T>C (p.Met400Thr) rs1563790727
NM_005975.4(PTK6):c.1066C>A (p.Pro356Thr) rs777792665
NM_013289.4(KIR3DL1):c.337G>A (p.Val113Met)
NM_013289.4(KIR3DL1):c.475G>T (p.Gly159Trp)
NM_014512.1(KIR2DS1):c.272A= (p.Lys91=)
NM_015719.4(COL5A3):c.4204A>C (p.Lys1402Gln) rs777027146
NM_145314.3(UCMA):c.413C>G (p.Thr138Ser)
NM_173165.3(NFATC3):c.1922G>A (p.Arg641Gln) rs772345934
NT_113889.1:g.54175G>A

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