ClinVar Miner

List of variants in gene TMEM67 reported as uncertain significance by GeneDx

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346 0.00188
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_153704.6(TMEM67):c.107C>T (p.Ala36Val) rs34779331 0.00071
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767 0.00023
NM_153704.6(TMEM67):c.511G>A (p.Val171Ile) rs200329273 0.00016
NM_153704.6(TMEM67):c.46C>T (p.Leu16Phe) rs367722582 0.00009
NM_153704.6(TMEM67):c.2323A>G (p.Ile775Val) rs200145042 0.00008
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490 0.00006
NM_153704.6(TMEM67):c.1823G>A (p.Arg608His) rs146130549 0.00005
NM_153704.6(TMEM67):c.1033A>G (p.Lys345Glu) rs764304394 0.00004
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met) rs771551765 0.00004
NM_153704.6(TMEM67):c.31A>G (p.Met11Val) rs758761945 0.00004
NM_153704.6(TMEM67):c.1177A>G (p.Ile393Val) rs755280678 0.00003
NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys) rs148726767 0.00003
NM_153704.6(TMEM67):c.2480A>G (p.Asp827Gly) rs139798663 0.00001
NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe) rs1376394849 0.00001
NM_153704.6(TMEM67):c.1111G>A (p.Gly371Arg) rs2130672846
NM_153704.6(TMEM67):c.1574A>G (p.Asp525Gly) rs2130711394
NM_153704.6(TMEM67):c.166G>T (p.Asp56Tyr) rs2130522683
NM_153704.6(TMEM67):c.1676C>T (p.Thr559Ile) rs1563470521
NM_153704.6(TMEM67):c.1942G>T (p.Val648Phe)
NM_153704.6(TMEM67):c.2266G>C (p.Glu756Gln)
NM_153704.6(TMEM67):c.2621A>G (p.Tyr874Cys) rs2130781526
NM_153704.6(TMEM67):c.2661+3A>G rs568703831
NM_153704.6(TMEM67):c.2742G>A (p.Met914Ile)
NM_153704.6(TMEM67):c.2825T>G (p.Phe942Cys) rs863225233
NM_153704.6(TMEM67):c.322A>G (p.Thr108Ala) rs2130544692
NM_153704.6(TMEM67):c.835G>A (p.Ala279Thr)
NM_153704.6(TMEM67):c.848C>T (p.Thr283Ile) rs747533371
NM_153704.6(TMEM67):c.970G>A (p.Glu324Lys)

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