ClinVar Miner

List of variants in gene TMEM67 reported as pathogenic for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_001142301.1(TMEM67):c.1170-1G>C rs386834185
NM_001142301.1(TMEM67):c.1600T>C (p.Cys534Arg) rs201893408
NM_001142301.1(TMEM67):c.2071_2079+4delinsGG rs1064792983
NM_001142301.1(TMEM67):c.2255T>C (p.Ile752Thr) rs267607119
NM_001142301.1(TMEM67):c.336_337del (p.Gly114fs) rs386834202
NM_001142301.1(TMEM67):c.379A>T (p.Arg127Ter) rs137853108
NM_001142301.1(TMEM67):c.482A>G (p.Asn161Ser) rs775883520
NM_001142301.1(TMEM67):c.803T>C (p.Leu268Ser) rs386834180
NM_001142301.1(TMEM67):c.872C>A (p.Thr291Lys) rs863225235
NM_153704.6(TMEM67):c.1373dup (p.Pro459fs)
NM_153704.6(TMEM67):c.2201_2208dup (p.Ala737fs)

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