ClinVar Miner

List of variants in gene AMELX, ARHGAP6 studied for amelogenesis imperfecta

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001142.2(AMELX):c.131G>A (p.Ser44Asn) rs431825177 0.00001
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.129G>C (p.Gln43His) rs431825176
NM_001142.2(AMELX):c.132C>A (p.Ser44Arg) rs431825178
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.289C>T (p.Gln97Ter) rs2147573600
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.47C>A (p.Ala16Asp)
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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