ClinVar Miner

List of variants in gene PAX9 studied for Hypodontia

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001372076.1(PAX9):c.718G>C (p.Ala240Pro) rs4904210 0.32799
NM_001372076.1(PAX9):c.631+41G>A rs2236007 0.16092
NC_000014.9:g.36659359C>A rs34914085 0.15249
NM_001372076.1(PAX9):c.516G>A (p.Lys172=) rs61734510 0.00976
NM_001372076.1(PAX9):c.623C>G (p.Thr208Ser) rs116676854 0.00784
NM_001372076.1(PAX9):c.609C>T (p.Gly203=) rs61754301 0.00142
NM_001372076.1(PAX9):c.30G>A (p.Gln10=) rs146561842 0.00045
NM_001372076.1(PAX9):c.428A>G (p.Tyr143Cys) rs139008563 0.00023
NM_001372076.1(PAX9):c.192C>T (p.Gly64=) rs200688741 0.00019
NM_001372076.1(PAX9):c.697T>C (p.Phe233Leu) rs200733091 0.00011
NM_001372076.1(PAX9):c.511G>A (p.Ala171Thr) rs143020311 0.00010
NM_001372076.1(PAX9):c.774A>T (p.Ala258=) rs750664427 0.00007
NM_001372076.1(PAX9):c.679A>C (p.Ser227Arg) rs199777734 0.00006
NM_001372076.1(PAX9):c.930G>C (p.Leu310Phe) rs116602527 0.00006
NM_001372076.1(PAX9):c.683T>C (p.Leu228Pro) rs780494094 0.00003
NM_001372076.1(PAX9):c.271A>G (p.Lys91Glu) rs28933373 0.00001
NM_001372076.1(PAX9):c.524C>T (p.Thr175Met) rs370909756 0.00001
NM_001372076.1(PAX9):c.640A>G (p.Ser214Gly) rs375436662 0.00001
NC_000014.8:g.(?_37135647)_(37135826_?)del
NC_000014.8:g.(?_37145383)_(37145677_?)del
NM_001372076.1(PAX9):c.107G>T (p.Gly36Val)
NM_001372076.1(PAX9):c.123C>T (p.Asp41=)
NM_001372076.1(PAX9):c.151G>A (p.Gly51Ser) rs104894469
NM_001372076.1(PAX9):c.156C>T (p.Cys52=)
NM_001372076.1(PAX9):c.180C>A (p.Tyr60Ter) rs1555316704
NM_001372076.1(PAX9):c.184G>A (p.Glu62Lys) rs778437280
NM_001372076.1(PAX9):c.1A>C (p.Met1Leu)
NM_001372076.1(PAX9):c.232G>C (p.Val78Leu)
NM_001372076.1(PAX9):c.248T>G (p.Val83Gly)
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.290T>A (p.Ile97Asn) rs1881349234
NM_001372076.1(PAX9):c.2T>A (p.Met1Lys) rs1594465933
NM_001372076.1(PAX9):c.335G>T (p.Cys112Phe)
NM_001372076.1(PAX9):c.337_345del (p.Asp113_Tyr115del)
NM_001372076.1(PAX9):c.343T>C (p.Tyr115His)
NM_001372076.1(PAX9):c.346A>T (p.Asn116Tyr) rs1398460057
NM_001372076.1(PAX9):c.393C>T (p.Ile131=)
NM_001372076.1(PAX9):c.40G>C (p.Val14Leu)
NM_001372076.1(PAX9):c.420C>A (p.Tyr140Ter) rs1881355965
NM_001372076.1(PAX9):c.428dup (p.Tyr143Ter) rs2139108430
NM_001372076.1(PAX9):c.437A>G (p.His146Arg)
NM_001372076.1(PAX9):c.438C>T (p.His146=)
NM_001372076.1(PAX9):c.451C>T (p.Gln151Ter) rs1261824175
NM_001372076.1(PAX9):c.458C>A (p.Ala153Glu)
NM_001372076.1(PAX9):c.45C>T (p.Phe15=)
NM_001372076.1(PAX9):c.480C>T (p.Tyr160=)
NM_001372076.1(PAX9):c.482C>A (p.Ser161Ter) rs2139108563
NM_001372076.1(PAX9):c.530C>T (p.Pro177Leu)
NM_001372076.1(PAX9):c.565C>T (p.Pro189Ser)
NM_001372076.1(PAX9):c.569G>A (p.Arg190His)
NM_001372076.1(PAX9):c.593_596dup (p.Asp200fs)
NM_001372076.1(PAX9):c.606G>A (p.Leu202=)
NM_001372076.1(PAX9):c.608del (p.Gly203fs) rs2139108839
NM_001372076.1(PAX9):c.631+14G>A
NM_001372076.1(PAX9):c.648dup (p.Tyr217fs) rs2139112502
NM_001372076.1(PAX9):c.684G>A (p.Leu228=)
NM_001372076.1(PAX9):c.689G>T (p.Arg230Leu) rs368787836
NM_001372076.1(PAX9):c.717C>T (p.His239=) rs12881240
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.771+20G>T
NM_001372076.1(PAX9):c.771+3G>T
NM_001372076.1(PAX9):c.772-2A>G
NM_001372076.1(PAX9):c.776C>A (p.Pro259Gln)
NM_001372076.1(PAX9):c.77G>A (p.Arg26Gln)
NM_001372076.1(PAX9):c.844_845insTTGC (p.Gln282fs) rs2139123055
NM_001372076.1(PAX9):c.954G>A (p.Pro318=)
NM_001372076.1(PAX9):c.959C>T (p.Ser320Leu) rs771366081
NM_001372076.1(PAX9):c.95T>C (p.Leu32Pro)
NM_001372076.1(PAX9):c.99_116del (p.Gln34_Pro39del) rs1881339978

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