ClinVar Miner

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

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121 0.00001
NC_000004.11:g.15601250_15601251delCT rs794729226
NM_001134831.2(AHI1):c.2623+1G>T rs751823180
NM_001134831.2(AHI1):c.2742del (p.Leu915fs) rs1583179845
NM_001384732.1(CPLANE1):c.1394del (p.Leu465fs) rs1280425167
NM_001384732.1(CPLANE1):c.2898del (p.Pro968fs) rs1305821156
NM_025114.4(CEP290):c.1522+1G>C rs1592639588
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.6271-8T>G rs1039146791
NM_025114.4(CEP290):c.881C>G (p.Ser294Ter) rs1592668925
NM_153704.6(TMEM67):c.2201_2208dup (p.Ala737fs) rs1586074742

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