List of variants in gene TMEM67 reported as likely pathogenic for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)	rs386834180	0.00004
NM_153704.6(TMEM67):c.651+2T>G	rs199821258	0.00003
NM_153704.6(TMEM67):c.1353del (p.Glu452fs)	rs749435317	0.00001
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)	rs775883520	0.00001
NM_153704.6(TMEM67):c.769A>G (p.Met257Val)	rs863225227	0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter)	rs769957689	0.00001
NM_153704.6(TMEM67):c.1132-2A>G
NM_153704.6(TMEM67):c.114del (p.Phe39fs)
NM_153704.6(TMEM67):c.1847C>A (p.Ala616Asp)
NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs)
NM_153704.6(TMEM67):c.223+1G>C
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly)	rs1815059174
NM_153704.6(TMEM67):c.2707G>C (p.Glu903Gln)	rs886039810
NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys)	rs375824494
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs)	rs868404889
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg)	rs138783896
NM_153704.6(TMEM67):c.551G>A (p.Cys184Tyr)	rs1813039419

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