ClinVar Miner

List of variants studied for Joubert syndrome by Broad Institute Rare Disease Group,Broad Institute

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_001044385.3(TMEM237):c.80-2A>G rs1445957469
NM_001082538.3(TCTN1):c.1171G>A (p.Gly391Arg) rs1566001519
NM_001082538.3(TCTN1):c.689T>C (p.Leu230Pro) rs1225241777
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val) rs372012542
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_019892.6(INPP5E):c.1763A>G (p.Tyr588Cys) rs1564431175
NM_023073.3(CPLANE1):c.6172C>G (p.Leu2058Val) rs576883816
NM_023073.3(CPLANE1):c.833A>G (p.Lys278Arg) rs566588740
NM_023073.3(CPLANE1):c.8696G>A (p.Trp2899Ter) rs1482303814
NM_025114.3(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.3(CEP290):c.4787_4790TAAA[1] (p.Lys1598Serfs)
NM_025114.3(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_153704.5(TMEM67):c.1421T>C (p.Leu474Pro) rs1554554236
NM_153704.5(TMEM67):c.1575+5G>A rs1554555063
NM_153704.5(TMEM67):c.2461G>A (p.Gly821Ser) rs267607116
NM_153704.5(TMEM67):c.2779T>C (p.Phe927Leu) rs1554561389

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