ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome with Jeune asphyxiating thoracic dystrophy by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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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_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys)
NM_001329943.3(KIAA0586):c.1045G>A (p.Val349Ile) rs771000156
NM_001329943.3(KIAA0586):c.1253+3A>G rs762698768
NM_001329943.3(KIAA0586):c.2553G>A (p.Lys851=)
NM_001329943.3(KIAA0586):c.2804T>A (p.Leu935Gln) rs537951340
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) rs199537542
NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys) rs746136288
NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg) rs1595348112
NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val) rs1425457941
NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys) rs201929144
NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile) rs376795880
NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu) rs370303493
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.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.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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