ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 1 by UW Hindbrain Malformation Research Program,University of Washington

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP
NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) rs754279998
NM_001165927.1(MKS1):c.1178C>T (p.Ser393Leu) rs773684291
NM_001165927.1(MKS1):c.1231C>T (p.Pro411Ser) rs863225210
NM_001165927.1(MKS1):c.1498dup (p.Arg500fs) rs863225204
NM_001165927.1(MKS1):c.1559-2A>T rs863225207
NM_001165927.1(MKS1):c.232-179_232-37del rs1555600644
NM_001165927.1(MKS1):c.351del (p.Tyr118fs) rs863225206
NM_001165927.1(MKS1):c.387G>A (p.Glu129=) rs386834048
NM_001165927.1(MKS1):c.50+286G>T rs863225205
NM_001165927.1(MKS1):c.737_738insC (p.Glu246fs) rs863225209
NM_001165927.1(MKS1):c.920G>A (p.Gly307Glu) rs863225208
NM_001286577.1(C2CD3):c.184C>T (p.Arg62Ter) rs587777653
NM_001286577.1(C2CD3):c.4951+1G>T rs863225151
NM_001286577.1(C2CD3):c.5267G>A (p.Gly1756Glu) rs150291837
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079
NM_015681.5(B9D1):c.285C>A (p.Phe95Leu) rs373478202
NM_015681.5(B9D1):c.466C>T (p.Arg156Trp) rs369488112
NM_015681.5(B9D1):c.95A>G (p.Tyr32Cys) rs771170000
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740
NM_019892.6(INPP5E):c.1064C>T (p.Thr355Met) rs863225198
NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr) rs863225200
NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu) rs863225201
NM_019892.6(INPP5E):c.1249T>C (p.Ser417Pro) rs863225202
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129
NM_019892.6(INPP5E):c.1468G>T (p.Asp490Tyr) rs757222534
NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu) rs746867724
NM_019892.6(INPP5E):c.1684A>G (p.Ser562Gly) rs863225197
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607
NM_019892.6(INPP5E):c.1760del (p.Val587fs) rs775518991
NM_019892.6(INPP5E):c.1897_1898del (p.Gln633fs) rs863225199
NM_019892.6(INPP5E):c.907G>A (p.Val303Met) rs746212325
NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu) rs754637179
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682
NM_024809.5(TCTN2):c.1291G>T (p.Glu431Ter) rs863225221
NM_024809.5(TCTN2):c.1626del (p.Asp543fs) rs863225220
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys) rs201010803
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys) rs201827132
NM_024809.5(TCTN2):c.76del (p.Asp26fs) rs863225222
NM_024809.5(TCTN2):c.76dup (p.Asp26fs) rs863225222
NM_030578.4(B9D2):c.107T>C (p.Leu36Pro) rs757863670
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser) rs863225150
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser) rs750436680

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