ClinVar Miner

List of variants reported as likely benign for congenital vitreoretinal dysplasia by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_001079802.2(FKTN):c.*1018T>A rs16924759
NM_001079802.2(FKTN):c.*1229A>G
NM_001079802.2(FKTN):c.*1249C>T rs79589823
NM_001079802.2(FKTN):c.*2213A>G
NM_001079802.2(FKTN):c.*2427G>T
NM_001079802.2(FKTN):c.*2910C>A rs148937517
NM_001079802.2(FKTN):c.*4825T>C rs115155934
NM_001079802.2(FKTN):c.*777C>A
NM_001079802.2(FKTN):c.*818C>T rs79162268
NM_001079802.2(FKTN):c.-158G>C rs4742953
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_004737.6(LARGE1):c.*1235A>G rs1801820
NM_004737.6(LARGE1):c.*796C>T rs144150303
NM_004737.6(LARGE1):c.1548C>T (p.Tyr516=) rs34292743
NM_004737.6(LARGE1):c.163A>G (p.Thr55Ala) rs34642406
NM_004737.6(LARGE1):c.1776G>T (p.Met592Ile) rs576967464
NM_004737.6(LARGE1):c.1878-11G>T rs200819807
NM_004737.6(LARGE1):c.1994G>A (p.Arg665His) rs1046166
NM_004737.6(LARGE1):c.251G>C (p.Ser84Thr) rs398124184
NM_004737.6(LARGE1):c.309C>T (p.Ser103=) rs59349720
NM_006731.2(FKTN):c.166-6A>G rs41277795
NM_006731.2(FKTN):c.910+14G>A rs76180538

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