ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 1 by Mendelics

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NC_000004.11:g.15601250_15601251delCT rs794729226
NM_001080522.2(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121
NM_001134831.2(AHI1):c.2623+1G>T
NM_001134831.2(AHI1):c.2742del (p.Leu915fs)
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791
NM_023073.3(CPLANE1):c.1394del (p.Leu465fs)
NM_023073.3(CPLANE1):c.2898del (p.Pro968fs)
NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs) rs727503855
NM_025114.3(CEP290):c.1666dupA (p.Ile556Asnfs) rs727503855
NM_025114.3(CEP290):c.2722C>T (p.Arg908Ter) rs886042153
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.4(CEP290):c.1522+1G>C
NM_025114.4(CEP290):c.6271-8T>G
NM_025114.4(CEP290):c.881C>G (p.Ser294Ter)
NM_153704.6(TMEM67):c.2201_2208dup (p.Ala737fs)

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