ClinVar Miner

List of variants in gene SOX9 reported as likely benign for bent bone dysplasia

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_000346.4(SOX9):c.685+8G>A rs117696751 0.00205
NM_000346.4(SOX9):c.993G>A (p.Ala331=) rs761105285 0.00045
NM_000346.4(SOX9):c.1059G>A (p.Pro353=) rs936943624 0.00043
NM_000346.4(SOX9):c.991G>A (p.Ala331Thr) rs199887368 0.00038
NM_000346.4(SOX9):c.1033C>T (p.Pro345Ser) rs768818630 0.00037
NM_000346.4(SOX9):c.1503C>T (p.Pro501=) rs139015010 0.00031
NM_000346.4(SOX9):c.930C>T (p.His310=) rs138423956 0.00015
NM_000346.4(SOX9):c.987G>A (p.Ala329=) rs200484258 0.00015
NM_000346.4(SOX9):c.1167G>A (p.Pro389=) rs147286621 0.00012
NM_000346.4(SOX9):c.711A>C (p.Pro237=) rs1305561578 0.00012
NM_000346.4(SOX9):c.591C>T (p.His197=) rs146754673 0.00011
NM_000346.4(SOX9):c.717C>T (p.Thr239=) rs370713128 0.00009
NM_000346.4(SOX9):c.921G>C (p.Pro307=) rs779558292 0.00008
NM_000346.4(SOX9):c.992C>T (p.Ala331Val) rs751049318 0.00007
NM_000346.4(SOX9):c.1092G>A (p.Ala364=) rs754417848 0.00006
NM_000346.4(SOX9):c.686-9T>C rs145818235 0.00006
NM_000346.4(SOX9):c.1029G>A (p.Pro343=) rs747054712 0.00004
NM_000346.4(SOX9):c.817G>C (p.Val273Leu) rs201477430 0.00004
NM_000346.4(SOX9):c.918G>A (p.Val306=) rs367966473 0.00004
NM_000346.4(SOX9):c.441C>T (p.Asn147=) rs200906477 0.00003
NM_000346.4(SOX9):c.537G>A (p.Arg179=) rs368864961 0.00003
NM_000346.4(SOX9):c.948G>A (p.Thr316=) rs773254646 0.00003
NM_000346.4(SOX9):c.1143G>A (p.Thr381=) rs371745406 0.00002
NM_000346.4(SOX9):c.1197G>C (p.Thr399=) rs777943068 0.00002
NM_000346.4(SOX9):c.522C>T (p.Tyr174=) rs373719106 0.00002
NM_000346.4(SOX9):c.582G>A (p.Glu194=) rs769303668 0.00002
NM_000346.4(SOX9):c.685+12C>T rs200724816 0.00002
NM_000346.4(SOX9):c.816C>T (p.Asp272=) rs779646701 0.00002
NM_000346.4(SOX9):c.958G>A (p.Gly320Ser) rs772231279 0.00002
NM_000346.4(SOX9):c.1053G>A (p.Gln351=) rs1311398689 0.00001
NM_000346.4(SOX9):c.1068G>A (p.Pro356=) rs1319508171 0.00001
NM_000346.4(SOX9):c.1074G>A (p.Ala358=) rs763397660 0.00001
NM_000346.4(SOX9):c.1080G>A (p.Pro360=) rs1303308937 0.00001
NM_000346.4(SOX9):c.1137G>A (p.Ala379=) rs774701551 0.00001
NM_000346.4(SOX9):c.1146G>T (p.Leu382=) rs752260212 0.00001
NM_000346.4(SOX9):c.1223G>T (p.Ser408Ile) rs1025099692 0.00001
NM_000346.4(SOX9):c.1281C>T (p.His427=) rs1233957619 0.00001
NM_000346.4(SOX9):c.1490A>G (p.His497Arg) rs759413061 0.00001
NM_000346.4(SOX9):c.432-10C>T rs745665708 0.00001
NM_000346.4(SOX9):c.432-20C>A rs753494101 0.00001
NM_000346.4(SOX9):c.447C>T (p.Ser149=) rs769838386 0.00001
NM_000346.4(SOX9):c.486C>G (p.Arg162=) rs1290444196 0.00001
NM_000346.4(SOX9):c.528G>T (p.Pro176=) rs753404357 0.00001
NM_000346.4(SOX9):c.633G>A (p.Ser211=) rs1223393659 0.00001
NM_000346.4(SOX9):c.685+7dup rs772013619 0.00001
NM_000346.4(SOX9):c.804C>A (p.Ile268=) rs1474624879 0.00001
NM_000346.4(SOX9):c.897G>C (p.Pro299=) rs1455014392 0.00001
NM_000346.4(SOX9):c.903C>T (p.Asn301=) rs372120742 0.00001
NM_000346.4(SOX9):c.924C>T (p.Ala308=) rs577872434 0.00001
NM_000346.4(SOX9):c.984G>A (p.Pro328=) rs762132069 0.00001
NM_000346.4(SOX9):c.*744del rs572140615
NM_000346.4(SOX9):c.1061_1069del (p.Pro354_Pro356del) rs761585795
NM_000346.4(SOX9):c.1062G>A (p.Pro354=) rs868845946
NM_000346.4(SOX9):c.1062G>C (p.Pro354=) rs868845946
NM_000346.4(SOX9):c.1110G>A (p.Pro370=)
NM_000346.4(SOX9):c.1119C>T (p.Pro373=)
NM_000346.4(SOX9):c.1143G>T (p.Thr381=)
NM_000346.4(SOX9):c.1212C>T (p.Pro404=) rs749575769
NM_000346.4(SOX9):c.1224C>T (p.Ser408=)
NM_000346.4(SOX9):c.1242G>A (p.Ser414=) rs1908206909
NM_000346.4(SOX9):c.1311C>T (p.Arg437=)
NM_000346.4(SOX9):c.1401C>A (p.Thr467=) rs1161082323
NM_000346.4(SOX9):c.1433C>T (p.Thr478Ile) rs2143257987
NM_000346.4(SOX9):c.1440C>T (p.Ile480=) rs2143258088
NM_000346.4(SOX9):c.1460C>T (p.Pro487Leu) rs2143258440
NM_000346.4(SOX9):c.1470G>A (p.Pro490=) rs772902383
NM_000346.4(SOX9):c.1470G>C (p.Pro490=)
NM_000346.4(SOX9):c.1482C>T (p.Ser494=) rs189130850
NM_000346.4(SOX9):c.1488G>A (p.Gln496=) rs2143258743
NM_000346.4(SOX9):c.432-7C>G rs1908139005
NM_000346.4(SOX9):c.454C>A (p.Arg152=) rs1908140265
NM_000346.4(SOX9):c.528G>A (p.Pro176=) rs753404357
NM_000346.4(SOX9):c.546G>C (p.Val182=)
NM_000346.4(SOX9):c.555G>A (p.Gly185=) rs749381187
NM_000346.4(SOX9):c.592A>T (p.Ile198Phe) rs2143246595
NM_000346.4(SOX9):c.672C>T (p.Pro224=) rs751227043
NM_000346.4(SOX9):c.681C>T (p.His227=) rs2143247464
NM_000346.4(SOX9):c.686-16C>T rs1391567311
NM_000346.4(SOX9):c.714C>G (p.Pro238=) rs368191855
NM_000346.4(SOX9):c.765G>A (p.Glu255=)
NM_000346.4(SOX9):c.813C>A (p.Arg271=) rs1908181707
NM_000346.4(SOX9):c.972C>T (p.Thr324=) rs994026508
NM_000346.4(SOX9):c.975G>A (p.Ala325=) rs775464344

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