ClinVar Miner

List of variants studied for Joubert syndrome 1 by OMIM

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_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp) rs13297509
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His) rs121918128
NM_175876.5(EXOC8):c.794A>G (p.Glu265Gly) rs483352868
NM_198525.3(KIF7):c.3986_3997del (p.Arg1329_Ser1332del) rs780942335

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