ClinVar Miner

List of variants in gene TMEM67 reported as uncertain significance for Meckel syndrome, type 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_001142301.1(TMEM67):c.-207del rs145334032
NM_001142301.1(TMEM67):c.1431+5A>T rs863224813
NM_001142301.1(TMEM67):c.1718-7T>A rs1563472215
NM_001142301.1(TMEM67):c.2313+4T>G rs772449181
NM_153704.6(TMEM67):c.119_124CTTTCC[3] (p.Pro42_Phe43dup) rs886063171
NM_153704.6(TMEM67):c.1318C>T (p.Arg440Trp) rs774746409
NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu) rs386834183
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767
NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys) rs148726767
NM_153704.6(TMEM67):c.1822C>G (p.Arg608Gly)
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) rs370004832
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr)
NM_153704.6(TMEM67):c.2237T>C (p.Ile746Thr) rs947256938
NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu) rs780823805
NM_153704.6(TMEM67):c.2351G>A (p.Cys784Tyr) rs1328212583
NM_153704.6(TMEM67):c.2654T>C (p.Ile885Thr) rs1563481671
NM_153704.6(TMEM67):c.2662G>T (p.Val888Phe) rs1586091861
NM_153704.6(TMEM67):c.2685T>A (p.Phe895Leu)
NM_153704.6(TMEM67):c.2725G>C (p.Glu909Gln) rs878855230
NM_153704.6(TMEM67):c.2777C>A (p.Ser926Tyr)
NM_153704.6(TMEM67):c.2787T>G (p.Ser929Arg)
NM_153704.6(TMEM67):c.443C>A (p.Ala148Glu) rs1563679408
NM_153704.6(TMEM67):c.511G>A (p.Val171Ile) rs200329273
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg) rs138783896
NM_153704.6(TMEM67):c.531T>G (p.Phe177Leu)
NM_153704.6(TMEM67):c.638G>A (p.Arg213His) rs770605718
NM_153704.6(TMEM67):c.679G>A (p.Ala227Thr)
NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu)
NM_153704.6(TMEM67):c.934T>C (p.Ser312Pro) rs864622335

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