ClinVar Miner

List of variants in gene TMEM67 studied for Inborn genetic diseases

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.577-6A>G rs191516556 0.00041
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_153704.6(TMEM67):c.37G>A (p.Val13Ile) rs561584664 0.00015
NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr) rs114655330 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_153704.6(TMEM67):c.2323A>G (p.Ile775Val) rs200145042 0.00008
NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu) rs780823805 0.00004
NM_153704.6(TMEM67):c.1495G>T (p.Asp499Tyr) rs758803102 0.00003
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.169A>G (p.Ile57Val) rs1303516077 0.00002
NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr) rs1281778614 0.00001
NM_153704.6(TMEM67):c.2447T>G (p.Leu816Trp) rs753654003 0.00001
NM_153704.6(TMEM67):c.2954C>T (p.Ser985Phe) rs375047471 0.00001
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520 0.00001
NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe) rs1376394849 0.00001
NM_153704.6(TMEM67):c.1256A>G (p.Asn419Ser)
NM_153704.6(TMEM67):c.1381G>T (p.Val461Leu)
NM_153704.6(TMEM67):c.191C>T (p.Pro64Leu)
NM_153704.6(TMEM67):c.2083G>C (p.Val695Leu)
NM_153704.6(TMEM67):c.2122G>C (p.Ala708Pro) rs149475825
NM_153704.6(TMEM67):c.217G>A (p.Ala73Thr)
NM_153704.6(TMEM67):c.2193G>C (p.Leu731Phe)
NM_153704.6(TMEM67):c.2438C>G (p.Ala813Gly)
NM_153704.6(TMEM67):c.2503A>G (p.Ile835Val)
NM_153704.6(TMEM67):c.2564G>A (p.Gly855Asp)
NM_153704.6(TMEM67):c.288T>G (p.Ile96Met) rs1812547985
NM_153704.6(TMEM67):c.2982G>T (p.Leu994Phe)
NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys) rs375824494
NM_153704.6(TMEM67):c.497T>C (p.Leu166Ser) rs1812963679
NM_153704.6(TMEM67):c.718T>C (p.Tyr240His)
NM_153704.6(TMEM67):c.829A>T (p.Asn277Tyr)
NM_153704.6(TMEM67):c.848C>T (p.Thr283Ile) rs747533371
NM_153704.6(TMEM67):c.970G>A (p.Glu324Lys)

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