ClinVar Miner

List of variants in gene TMEM67 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
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.369C>T (p.Ala123=) rs115640152 0.00046
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) rs370004832 0.00015
NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys) rs148726767 0.00003
NM_153704.6(TMEM67):c.2132A>C (p.Asp711Ala) rs781383498 0.00002
NM_153704.6(TMEM67):c.226A>G (p.Thr76Ala) rs747598603 0.00001
NM_153704.6(TMEM67):c.2322+2dup rs386834192 0.00001
NM_153704.6(TMEM67):c.347C>T (p.Ser116Phe) rs1187712756 0.00001
NM_153704.6(TMEM67):c.2357G>A (p.Gly786Glu) rs386834193
NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys) rs375824494

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