ClinVar Miner

List of variants in gene TMEM67 reported as uncertain significance by Gharavi Laboratory, Columbia University

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.185G>A (p.Cys62Tyr) rs1411871276 0.00001
NM_153704.6(TMEM67):c.2890A>G (p.Thr964Ala) rs1563486544 0.00001
NM_153704.6(TMEM67):c.1063C>T (p.Gln355Ter) rs1563459389
NM_153704.6(TMEM67):c.1122C>A (p.Tyr374Ter) rs1563460098
NM_153704.6(TMEM67):c.1676C>T (p.Thr559Ile) rs1563470521
NM_153704.6(TMEM67):c.2647T>C (p.Ser883Pro) rs548693232
NM_153704.6(TMEM67):c.2702T>G (p.Leu901Arg) rs1563482155
NM_153704.6(TMEM67):c.3G>T (p.Met1Ile) rs1563672343
NM_153704.6(TMEM67):c.458G>T (p.Cys153Phe) rs1563679434

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