ClinVar Miner

List of variants reported as likely benign 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: 28
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HGVS dbSNP
NM_001329943.3(KIAA0586):c.1568C>T (p.Ala523Val) rs556274091
NM_001329943.3(KIAA0586):c.15G>C (p.Glu5Asp) rs199554737
NM_001329943.3(KIAA0586):c.1656+7C>A rs777449141
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser) rs183168709
NM_001329943.3(KIAA0586):c.3553G>A (p.Glu1185Lys) rs200722491
NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=) rs201202020
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=) rs143158234
NM_001329943.3(KIAA0586):c.3781+8A>G rs368737744
NM_001329943.3(KIAA0586):c.3861G>A (p.Glu1287=) rs188676684
NM_001329943.3(KIAA0586):c.4404T>C (p.Ser1468=) rs774903272
NM_001329943.3(KIAA0586):c.4430-6A>C rs199732899
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr) rs140026883
NM_001329943.3(KIAA0586):c.4646G>A (p.Ter1549=) rs758764999
NM_001329943.3(KIAA0586):c.657A>G (p.Lys219=) rs533752814
NM_024790.6(CSPP1):c.1088A>G (p.Asp363Gly) rs146127619
NM_024790.6(CSPP1):c.1168C>T (p.Leu390=) rs539302524
NM_024790.6(CSPP1):c.159C>T (p.Ala53=) rs370003497
NM_024790.6(CSPP1):c.189A>T (p.Pro63=) rs1271272185
NM_024790.6(CSPP1):c.212A>G (p.Lys71Arg) rs200158932
NM_024790.6(CSPP1):c.2253A>G (p.Glu751=) rs199962946
NM_024790.6(CSPP1):c.2575A>C (p.Ser859Arg) rs201259375
NM_024790.6(CSPP1):c.2657C>T (p.Pro886Leu) rs755021253
NM_024790.6(CSPP1):c.3389T>G (p.Leu1130Arg) rs546683385
NM_024790.6(CSPP1):c.3390T>G (p.Leu1130=) rs376215036
NM_024790.6(CSPP1):c.3563C>T (p.Thr1188Met) rs201142840
NM_024790.6(CSPP1):c.538A>G (p.Ile180Val) rs188917565
NM_024790.6(CSPP1):c.659G>T (p.Arg220Leu) rs193231165
NM_024790.6(CSPP1):c.842G>A (p.Arg281Gln) rs201609022

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