ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome 21 by Invitae

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ClinVar version:
Total variants: 87
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HGVS dbSNP
NC_000008.10:g.(?_68024187)_(68107848_?)dup
NC_000008.11:g.(?_67010715)_(67064496_?)dup
NC_000008.11:g.(?_67111972)_(67218138_?)dup
NC_000008.11:g.(?_67193464)_(67193602_?)del
NM_001382391.1(CSPP1):c.1043C>A (p.Ser348Tyr)
NM_001382391.1(CSPP1):c.1093+3A>G
NM_001382391.1(CSPP1):c.113C>T (p.Ala38Val)
NM_001382391.1(CSPP1):c.1325A>G (p.His442Arg)
NM_001382391.1(CSPP1):c.1359A>C (p.Arg453Ser)
NM_001382391.1(CSPP1):c.1501G>A (p.Ala501Thr)
NM_001382391.1(CSPP1):c.15G>A (p.Leu5=)
NM_001382391.1(CSPP1):c.1639G>A (p.Val547Ile)
NM_001382391.1(CSPP1):c.1645C>G (p.Pro549Ala)
NM_001382391.1(CSPP1):c.1831C>T (p.Arg611Trp)
NM_001382391.1(CSPP1):c.1906A>G (p.Arg636Gly)
NM_001382391.1(CSPP1):c.191G>A (p.Gly64Asp)
NM_001382391.1(CSPP1):c.1929A>T (p.Lys643Asn)
NM_001382391.1(CSPP1):c.2059G>T (p.Val687Leu)
NM_001382391.1(CSPP1):c.2238C>A (p.Phe746Leu)
NM_001382391.1(CSPP1):c.2282G>A (p.Arg761Lys)
NM_001382391.1(CSPP1):c.254A>G (p.His85Arg)
NM_001382391.1(CSPP1):c.2800A>G (p.Met934Val)
NM_001382391.1(CSPP1):c.2981G>A (p.Arg994Gln)
NM_001382391.1(CSPP1):c.3029C>G (p.Thr1010Ser)
NM_001382391.1(CSPP1):c.3050C>T (p.Ala1017Val)
NM_001382391.1(CSPP1):c.3156+6C>T
NM_001382391.1(CSPP1):c.3603G>C (p.Gln1201His)
NM_001382391.1(CSPP1):c.52G>A (p.Glu18Lys)
NM_001382391.1(CSPP1):c.58A>C (p.Lys20Gln)
NM_001382391.1(CSPP1):c.757G>C (p.Ala253Pro)
NM_001382391.1(CSPP1):c.769G>A (p.Asp257Asn)
NM_001382391.1(CSPP1):c.799C>T (p.Arg267Cys)
NM_001382391.1(CSPP1):c.821A>G (p.His274Arg)
NM_001382391.1(CSPP1):c.849T>G (p.Ser283Arg)
NM_001382391.1(CSPP1):c.89T>C (p.Met30Thr)
NM_001382391.1(CSPP1):c.941G>A (p.Arg314Gln)
NM_024790.6(CSPP1):c.1021A>G (p.Ile341Val)
NM_024790.6(CSPP1):c.113C>T (p.Ala38Val) rs553988238
NM_024790.6(CSPP1):c.1387G>C (p.Val463Leu)
NM_024790.6(CSPP1):c.1482-3C>T
NM_024790.6(CSPP1):c.1525A>G (p.Thr509Ala)
NM_024790.6(CSPP1):c.1540C>T (p.Pro514Ser)
NM_024790.6(CSPP1):c.1541C>T (p.Pro514Leu)
NM_024790.6(CSPP1):c.1628A>C (p.Gln543Pro)
NM_024790.6(CSPP1):c.1636G>A (p.Ala546Thr)
NM_024790.6(CSPP1):c.1660C>A (p.His554Asn) rs201417325
NM_024790.6(CSPP1):c.1678G>A (p.Val560Ile) rs199608505
NM_024790.6(CSPP1):c.1856A>G (p.Lys619Arg)
NM_024790.6(CSPP1):c.1931C>T (p.Pro644Leu) rs376210928
NM_024790.6(CSPP1):c.1968G>C (p.Leu656Phe) rs374318063
NM_024790.6(CSPP1):c.1972A>G (p.Arg658Gly) rs199996939
NM_024790.6(CSPP1):c.2065G>T (p.Ala689Ser)
NM_024790.6(CSPP1):c.208-3C>T
NM_024790.6(CSPP1):c.216G>T (p.Leu72Phe)
NM_024790.6(CSPP1):c.2219G>A (p.Arg740His)
NM_024790.6(CSPP1):c.2279C>A (p.Ala760Glu) rs376549634
NM_024790.6(CSPP1):c.256A>G (p.Met86Val)
NM_024790.6(CSPP1):c.2579A>T (p.Lys860Ile)
NM_024790.6(CSPP1):c.2660C>G (p.Pro887Arg)
NM_024790.6(CSPP1):c.2686C>T (p.Arg896Cys)
NM_024790.6(CSPP1):c.2720A>G (p.Glu907Gly) rs1586651470
NM_024790.6(CSPP1):c.2736A>C (p.Arg912Ser)
NM_024790.6(CSPP1):c.2747G>A (p.Arg916His)
NM_024790.6(CSPP1):c.2758A>G (p.Arg920Gly)
NM_024790.6(CSPP1):c.2798A>G (p.Asp933Gly) rs1282726257
NM_024790.6(CSPP1):c.2953+5G>A rs1057524684
NM_024790.6(CSPP1):c.2972A>C (p.Asp991Ala)
NM_024790.6(CSPP1):c.2996C>T (p.Pro999Leu)
NM_024790.6(CSPP1):c.3091A>G (p.Lys1031Glu)
NM_024790.6(CSPP1):c.3094G>A (p.Val1032Ile)
NM_024790.6(CSPP1):c.3142C>T (p.Pro1048Ser)
NM_024790.6(CSPP1):c.3173A>G (p.Asn1058Ser)
NM_024790.6(CSPP1):c.3260C>T (p.Ser1087Leu)
NM_024790.6(CSPP1):c.3281A>G (p.Glu1094Gly) rs201629827
NM_024790.6(CSPP1):c.3437A>G (p.Asn1146Ser)
NM_024790.6(CSPP1):c.3494_3497dup (p.His1166fs) rs776145236
NM_024790.6(CSPP1):c.3623C>G (p.Pro1208Arg)
NM_024790.6(CSPP1):c.3640C>G (p.Gln1214Glu)
NM_024790.6(CSPP1):c.382C>T (p.Arg128Trp)
NM_024790.6(CSPP1):c.475A>G (p.Ser159Gly) rs1554569071
NM_024790.6(CSPP1):c.50A>G (p.Asp17Gly)
NM_024790.6(CSPP1):c.536C>A (p.Pro179His)
NM_024790.6(CSPP1):c.677A>G (p.Tyr226Cys)
NM_024790.6(CSPP1):c.800G>A (p.Arg267Lys)
NM_024790.6(CSPP1):c.830T>A (p.Val277Asp)
NM_024790.6(CSPP1):c.841C>T (p.Arg281Trp) rs756423026
NM_024790.6(CSPP1):c.946G>A (p.Asp316Asn)

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