List of variants in gene combination AMELX, ARHGAP6 reported as pathogenic for tooth hard tissue 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001142.2(AMELX):c.110C>T (p.Thr37Ile)	rs104894733
NM_001142.2(AMELX):c.113del (p.Pro38fs)	rs387906487
NM_001142.2(AMELX):c.11G>C (p.Trp4Ser)	rs104894738
NM_001142.2(AMELX):c.143del (p.Pro48fs)	rs1603038146
NM_001142.2(AMELX):c.14_22del (p.Ile5_Ala8delinsThr)	rs387906488
NM_001142.2(AMELX):c.166C>A (p.Pro56Thr)	rs104894736
NM_001142.2(AMELX):c.167C>T (p.Pro56Leu)
NM_001142.2(AMELX):c.2T>C (p.Met1Thr)	rs104894737
NM_001142.2(AMELX):c.378del (p.Tyr127fs)	rs387906491
NM_001142.2(AMELX):c.431del (p.Pro144fs)	rs387906489
NM_001142.2(AMELX):c.499del (p.Leu167fs)	rs387906490
NM_001142.2(AMELX):c.529G>T (p.Glu177Ter)	rs104894734
NM_001287242.1(ARHGAP6):c.49-45951_49-41228del

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