ClinVar Miner

List of variants studied for Joubert syndrome 8

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Total variants: 65
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HGVS dbSNP
NC_000003.12:g.(?_93874245)_(94015269_?)dup
NC_000003.12:g.(?_93973674)_(94126490_?)dup
NC_000003.12:g.(?_94035331)_(94061511_?)dup
NM_001174150.2(ARL13B):c.1006C>T (p.Arg336Trp) rs774235804
NM_001174150.2(ARL13B):c.1023A>G (p.Ser341=)
NM_001174150.2(ARL13B):c.1025-3T>A
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.105C>T (p.Thr35=) rs146396078
NM_001174150.2(ARL13B):c.106G>A (p.Ala36Thr) rs139780924
NM_001174150.2(ARL13B):c.1070A>G (p.His357Arg)
NM_001174150.2(ARL13B):c.1073G>A (p.Arg358Gln) rs369942016
NM_001174150.2(ARL13B):c.1117A>T (p.Thr373Ser)
NM_001174150.2(ARL13B):c.1133C>T (p.Pro378Leu) rs1385061611
NM_001174150.2(ARL13B):c.1134T>A (p.Pro378=) rs1401884380
NM_001174150.2(ARL13B):c.1137T>A (p.Pro379=) rs1325555759
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035
NM_001174150.2(ARL13B):c.1156C>T (p.Pro386Ser)
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412
NM_001174150.2(ARL13B):c.1193G>T (p.Gly398Val)
NM_001174150.2(ARL13B):c.1209T>C (p.Asn403=)
NM_001174150.2(ARL13B):c.120A>G (p.Gly40=) rs774691904
NM_001174150.2(ARL13B):c.1211-10C>A
NM_001174150.2(ARL13B):c.1217A>G (p.Tyr406Cys)
NM_001174150.2(ARL13B):c.1253G>A (p.Arg418Gln) rs142510905
NM_001174150.2(ARL13B):c.1261A>G (p.Ser421Gly) rs112062713
NM_001174150.2(ARL13B):c.130+7T>C rs200527262
NM_001174150.2(ARL13B):c.22T>G (p.Cys8Gly)
NM_001174150.2(ARL13B):c.233T>C (p.Ile78Thr)
NM_001174150.2(ARL13B):c.236G>A (p.Arg79Gln) rs121912606
NM_001174150.2(ARL13B):c.246G>A (p.Trp82Ter) rs121912607
NM_001174150.2(ARL13B):c.257A>G (p.Tyr86Cys) rs863225430
NM_001174150.2(ARL13B):c.308G>T (p.Arg103Ile)
NM_001174150.2(ARL13B):c.30C>T (p.Gly10=) rs375770842
NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs) rs1560002959
NM_001174150.2(ARL13B):c.397G>T (p.Asp133Tyr)
NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly) rs529580146
NM_001174150.2(ARL13B):c.461A>G (p.Asn154Ser) rs758972393
NM_001174150.2(ARL13B):c.501A>C (p.Ala167=) rs774807971
NM_001174150.2(ARL13B):c.506C>T (p.Ser169Leu)
NM_001174150.2(ARL13B):c.551A>G (p.Tyr184Cys)
NM_001174150.2(ARL13B):c.59+8G>A rs183229189
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys) rs121912608
NM_001174150.2(ARL13B):c.614C>A (p.Thr205Lys)
NM_001174150.2(ARL13B):c.626G>A (p.Arg209His) rs199790565
NM_001174150.2(ARL13B):c.64G>A (p.Val22Met)
NM_001174150.2(ARL13B):c.65T>G (p.Val22Gly) rs863225149
NM_001174150.2(ARL13B):c.680_682del (p.Arg227_Glu228delinsGln)
NM_001174150.2(ARL13B):c.682G>A (p.Glu228Lys) rs752848590
NM_001174150.2(ARL13B):c.690-5G>A rs373173586
NM_001174150.2(ARL13B):c.715G>A (p.Glu239Lys) rs778540135
NM_001174150.2(ARL13B):c.720C>T (p.Leu240=) rs752196300
NM_001174150.2(ARL13B):c.721G>A (p.Asp241Asn)
NM_001174150.2(ARL13B):c.775C>T (p.Pro259Ser) rs538624288
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169
NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys) rs139997243
NM_001174150.2(ARL13B):c.857G>C (p.Gly286Ala)
NM_001174150.2(ARL13B):c.884A>G (p.His295Arg)
NM_001174150.2(ARL13B):c.891A>T (p.Gln297His)
NM_001174150.2(ARL13B):c.896A>C (p.Glu299Ala)
NM_001174150.2(ARL13B):c.898A>T (p.Thr300Ser)
NM_001174150.2(ARL13B):c.938A>C (p.Glu313Ala)
NM_001174150.2(ARL13B):c.943G>A (p.Gly315Arg) rs143785315
NM_001174150.2(ARL13B):c.949G>A (p.Val317Ile)
NM_001174150.2(ARL13B):c.959A>T (p.Tyr320Phe)

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