ClinVar Miner

List of variants in gene ARL13B studied for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_001174150.2(ARL13B):c.*1001A>C rs538413974
NM_001174150.2(ARL13B):c.*1136A>G rs78386221
NM_001174150.2(ARL13B):c.*1654T>C rs886058935
NM_001174150.2(ARL13B):c.*1705T>C rs567211919
NM_001174150.2(ARL13B):c.*1718G>A rs183639595
NM_001174150.2(ARL13B):c.*1775G>A rs563142267
NM_001174150.2(ARL13B):c.*1818_*1822ATATA[1] rs752990716
NM_001174150.2(ARL13B):c.*1826T>C rs548945864
NM_001174150.2(ARL13B):c.*194A>C rs370306318
NM_001174150.2(ARL13B):c.*2009T>C rs538221197
NM_001174150.2(ARL13B):c.*2026T>C rs571746079
NM_001174150.2(ARL13B):c.*2297T>C rs149269561
NM_001174150.2(ARL13B):c.*2316G>A rs757759984
NM_001174150.2(ARL13B):c.*2318G>A rs571764907
NM_001174150.2(ARL13B):c.*2363C>G rs146137797
NM_001174150.2(ARL13B):c.*272C>T rs886058933
NM_001174150.2(ARL13B):c.*2C>T rs377420487
NM_001174150.2(ARL13B):c.*357A>G rs561009587
NM_001174150.2(ARL13B):c.*393T>C rs530141372
NM_001174150.2(ARL13B):c.*703C>T rs75280469
NM_001174150.2(ARL13B):c.*765T>G rs886058934
NM_001174150.2(ARL13B):c.-157T>C rs745658300
NM_001174150.2(ARL13B):c.-234G>T rs114936013
NM_001174150.2(ARL13B):c.-257C>T rs73846074
NM_001174150.2(ARL13B):c.-263C>T rs143828740
NM_001174150.2(ARL13B):c.-40T>G rs886058931
NM_001174150.2(ARL13B):c.-50C>A rs199505618
NM_001174150.2(ARL13B):c.-92G>T rs754026490
NM_001174150.2(ARL13B):c.1006C>T (p.Arg336Trp) rs774235804
NM_001174150.2(ARL13B):c.1007G>A (p.Arg336Gln) rs550306731
NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser) rs33944211
NM_001174150.2(ARL13B):c.1045A>G (p.Lys349Glu) rs139063474
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412
NM_001174150.2(ARL13B):c.1270C>T (p.His424Tyr) rs886058932
NM_001174150.2(ARL13B):c.30C>T (p.Gly10=) rs375770842
NM_001174150.2(ARL13B):c.486+22del
NM_001174150.2(ARL13B):c.486+22dup
NM_001174150.2(ARL13B):c.690-10C>T rs373752093
NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys) rs139997243

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