ClinVar Miner

List of variants studied for Joubert syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (57):
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Total variants: 26
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.4179+1delG rs386833760
NM_001080522.2(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001082538.3(TCTN1):c.843+1del rs797046039
NM_001082538.3(TCTN1):c.940G>A (p.Ala314Thr) rs199529768
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) rs797045224
NM_014704.4(CEP104):c.49del (p.Asp17fs) rs1334483830
NM_014749.5(KIAA0586):c.3848_3849CT[2] (p.Met1286fs) rs867342730
NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs) rs797045918
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168
NM_023073.3(CPLANE1):c.493del (p.Ile165fs) rs606231259
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_023073.3(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149
NM_023073.3(CPLANE1):c.7400+1G>A rs367543062
NM_023073.3(CPLANE1):c.7957+288G>A rs111294855
NM_023073.3(CPLANE1):c.7988_7989del (p.Gly2663fs) rs730882217
NM_023073.3(CPLANE1):c.8512C>T (p.His2838Tyr) rs201404524
NM_023073.3(CPLANE1):c.9362C>T (p.Thr3121Met) rs587783354
NM_024790.6(CSPP1):c.2205C>A (p.Tyr735Ter) rs1402669959
NM_024790.6(CSPP1):c.2244_2247del (p.Glu750fs) rs587777145
NM_024790.6(CSPP1):c.2814-9_2953+11del rs1554614893
NM_153704.5(TMEM67):c.579_580del (p.Gly195fs) rs386834202
NM_153704.5(TMEM67):c.622A>T (p.Arg208Ter) rs137853108

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