ClinVar Miner

List of variants in gene PAX9 reported as pathogenic for tooth agenesis

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001372076.1(PAX9):c.271A>G (p.Lys91Glu) rs28933373 0.00001
NC_000014.8:g.(?_37135647)_(37135826_?)del
NM_001372076.1(PAX9):c.112C>T (p.Arg38Ter)
NM_001372076.1(PAX9):c.139C>T (p.Arg47Trp) rs121917720
NM_001372076.1(PAX9):c.151G>A (p.Gly51Ser) rs104894469
NM_001372076.1(PAX9):c.176_182delinsAGCCACACAGTCTTGCCACACACAGTCTTCTGCCTCATCTCAAACTACCAGACCCATAACATCCCCCCATCCCAACACATGGTTCGCATTTTCCACCTCCCCCGCCTCTCGCGCCGAGGCAGCCTCAGCCCGGCTTGCTCACTTGGAGAGTGCGGCCGGGGCTGGACTTGGGGCGCAGCCCGGGAGGCCCGAGCCTGCTTGGGGCTGCCGGCTGCAGACTCCGCTGTGGGCAGAGCAGCTTGCTTGGGGACTACTACGGCCGGGATCGGTAATCAGGCCAAGAT (p.Arg59_Asn61delinsGlnProHisSerLeuAlaThrHisSerLeuLeuProHisLeuLysLeuProAspProTer) rs2139108031
NM_001372076.1(PAX9):c.180C>A (p.Tyr60Ter) rs1555316704
NM_001372076.1(PAX9):c.191G>T (p.Gly64Val) rs2139108057
NM_001372076.1(PAX9):c.1A>C (p.Met1Leu)
NM_001372076.1(PAX9):c.1A>G (p.Met1Val) rs2139106532
NM_001372076.1(PAX9):c.218dup (p.Ser74fs) rs1881345182
NM_001372076.1(PAX9):c.253_259del (p.Lys85fs)
NM_001372076.1(PAX9):c.258_259del (p.Ile87fs)
NM_001372076.1(PAX9):c.259A>T (p.Ile87Phe) rs104894468
NM_001372076.1(PAX9):c.285del (p.Gly96fs)
NM_001372076.1(PAX9):c.2T>A (p.Met1Lys) rs1594465933
NM_001372076.1(PAX9):c.336C>G (p.Cys112Trp) rs587776350
NM_001372076.1(PAX9):c.340A>T (p.Lys114Ter) rs104894467
NM_001372076.1(PAX9):c.354del (p.Ser119fs) rs2139108320
NM_001372076.1(PAX9):c.420C>A (p.Tyr140Ter) rs1881355965
NM_001372076.1(PAX9):c.428dup (p.Tyr143Ter) rs2139108430
NM_001372076.1(PAX9):c.451C>T (p.Gln151Ter) rs1261824175
NM_001372076.1(PAX9):c.482C>A (p.Ser161Ter) rs2139108563
NM_001372076.1(PAX9):c.593_596dup (p.Asp200fs)
NM_001372076.1(PAX9):c.59C>T (p.Pro20Leu) rs1555316697
NM_001372076.1(PAX9):c.608del (p.Gly203fs) rs2139108839
NM_001372076.1(PAX9):c.619_621delinsTACCGACCAAGGTAGGGCATCCCT (p.Ile207delinsTyrArgProArgTer) rs2139108874
NM_001372076.1(PAX9):c.62T>C (p.Leu21Pro) rs28933970
NM_001372076.1(PAX9):c.648dup (p.Tyr217fs) rs2139112502
NM_001372076.1(PAX9):c.72_76dup (p.Arg26fs) rs2139107881
NM_001372076.1(PAX9):c.76C>T (p.Arg26Trp) rs28933972
NM_001372076.1(PAX9):c.792_793insC (p.Val265fs) rs1594475481
NM_001372076.1(PAX9):c.83G>C (p.Arg28Pro) rs28933971
NM_006194.3(PAX9):c.3G>A (p.Met1Ile) rs1131692057
PAX9, 1-BP INS, 190G

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