ClinVar Miner

List of variants studied for Meckel syndrome, type 3 by OMIM

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Total variants: 7
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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.1127A>C (p.Gln376Pro) rs137853106
NM_153704.6(TMEM67):c.1575+1G>A rs386834187
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.648del (p.Val217fs) rs386834204
NM_153704.6(TMEM67):c.870-2A>G rs386834207

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