ClinVar Miner

List of variants studied for Meckel syndrome, type 3 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=) rs201791586 0.00001
NM_153704.6(TMEM67):c.2306del (p.Leu769fs) rs2130757733
NM_153704.6(TMEM67):c.2326T>A (p.Ser776Thr) rs748937483

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