ClinVar Miner

List of variants studied for syndromic microphthalmia type 5 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_021728.4(OTX2):c.*10G>A rs171978 0.06420
NM_021728.4(OTX2):c.459C>T (p.Ser153=) rs34537598 0.00961
NM_021728.4(OTX2):c.97+12C>T rs28757218 0.00889
NM_021728.4(OTX2):c.*779G>A rs138197536 0.00041
NM_021728.4(OTX2):c.*667A>C rs184421963 0.00024
NM_021728.4(OTX2):c.*647A>G rs886050557 0.00023
NM_021728.4(OTX2):c.*764G>A rs775857186 0.00014
NM_021728.4(OTX2):c.-119-65G>T rs886050561 0.00010
NM_021728.4(OTX2):c.*219G>A rs886050559 0.00003
NM_021728.4(OTX2):c.713A>T (p.His238Leu) rs144449264 0.00003
NM_021728.4(OTX2):c.*1018T>C rs1594950988 0.00001
NM_021728.4(OTX2):c.*147G>T rs1478094910 0.00001
NM_021728.4(OTX2):c.*543A>G rs948990605 0.00001
NM_021728.4(OTX2):c.*648C>A rs886050556 0.00001
NM_021728.4(OTX2):c.*648C>G rs886050556
NM_021728.4(OTX2):c.*933C>T rs886050555
NM_021728.4(OTX2):c.*993G>C rs1891845026
NM_021728.4(OTX2):c.150G>C (p.Arg50Ser)
NM_021728.4(OTX2):c.380G>C (p.Arg127Pro) rs199799627
NM_021728.4(OTX2):c.380G>T (p.Arg127Leu) rs199799627
NM_021728.4(OTX2):c.96G>T (p.Pro32=) rs1892046623

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