ClinVar Miner

List of variants reported as pathogenic 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: 21
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HGVS dbSNP
NC_000014.9:g.(?_58443934)_(58450766_?)del
NM_001291339.1(CSPP1):c.1325_1326GA[2] (p.Lys444fs)
NM_001329943.3(KIAA0586):c.1254-1G>C rs757350052
NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter) rs1566827747
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs) rs1410766981
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=) rs540255320
NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter)
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) rs745949846
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs) rs1203751352
NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=) rs780520735
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894
NM_024790.6(CSPP1):c.1534C>T (p.Arg512Ter)
NM_024790.6(CSPP1):c.167_168del (p.Lys56fs) rs766020802
NM_024790.6(CSPP1):c.1961-2A>G
NM_024790.6(CSPP1):c.2089G>T (p.Glu697Ter)
NM_024790.6(CSPP1):c.2320C>T (p.Arg774Ter) rs587777138
NM_024790.6(CSPP1):c.2512dup (p.Glu838fs) rs1554604482
NM_024790.6(CSPP1):c.2525del (p.His842fs) rs1563720581
NM_024790.6(CSPP1):c.2708del (p.Asn903fs) rs863225190
NM_024790.6(CSPP1):c.2815A>T (p.Lys939Ter) rs1380418532

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