ClinVar Miner

List of variants in gene TMEM67 reported as likely pathogenic for Joubert syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_001142301.1(TMEM67):c.1110delA (p.Glu371Lysfs) rs749435317
NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.5(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727
NM_153704.5(TMEM67):c.1575+5G>A rs1554555063
NM_153704.5(TMEM67):c.1774-6_1774-3delinsATAA rs1554556213
NM_153704.5(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408
NM_153704.5(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.5(TMEM67):c.2322+2dupT rs386834192
NM_153704.5(TMEM67):c.2322+5delG rs863225240
NM_153704.5(TMEM67):c.2661+5G>A rs863225239
NM_153704.5(TMEM67):c.297G>T (p.Lys99Asn) rs797046045
NM_153704.5(TMEM67):c.725A>G (p.Asn242Ser) rs775883520

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