ClinVar Miner

List of variants in gene TMEM67 reported as pathogenic for Meckel syndrome, type 3

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182 0.00004
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys) rs747025617 0.00003
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=) rs201791586 0.00001
NM_153704.6(TMEM67):c.1127A>C (p.Gln376Pro) rs137853106
NM_153704.6(TMEM67):c.1575+1G>A rs386834187
NM_153704.6(TMEM67):c.2301del (p.Asp768fs) rs386834191
NM_153704.6(TMEM67):c.2306del (p.Leu769fs) rs2130757733
NM_153704.6(TMEM67):c.2326T>A (p.Ser776Thr) rs748937483
NM_153704.6(TMEM67):c.2754_2756del (p.Phe919del) rs786205126
NM_153704.6(TMEM67):c.383_384del (p.His128fs) rs386834200
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs) rs868404889
NM_153704.6(TMEM67):c.579del (p.Gly195fs) rs386834203
NM_153704.6(TMEM67):c.648del (p.Val217fs) rs386834204
NM_153704.6(TMEM67):c.870-2A>G rs386834207

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