ClinVar Miner

List of variants studied for Joubert syndrome 1 by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_025114.3(CEP290):c.3104-2A>G rs773386777
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
NM_153704.5(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727
NM_153704.5(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408
NM_206933.3(USH2A):c.14027A>G (p.Gln4676Arg) rs397517987
NM_206933.3(USH2A):c.1966G>A (p.Asp656Asn) rs146824138

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