ClinVar Miner

List of variants studied for Spondylocostal dysostosis 3, autosomal recessive

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ClinVar version:
Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_001040167.2(LFNG):c.482-4A>G rs62444250 0.05791
NM_001040167.2(LFNG):c.972G>A (p.Ser324=) rs12700028 0.04179
NM_001040167.2(LFNG):c.1002C>T (p.Tyr334=) rs61743870 0.03693
NM_001040167.2(LFNG):c.481+3G>A rs141008352 0.00361
NM_001040167.2(LFNG):c.75C>T (p.Thr25=) rs767338996 0.00209
NM_001040167.2(LFNG):c.667G>A (p.Val223Ile) rs142596712 0.00128
NM_001040167.2(LFNG):c.612C>T (p.Tyr204=) rs147266260 0.00105
NM_001040167.2(LFNG):c.581+14C>T rs371327031 0.00061
NM_001040167.2(LFNG):c.1021C>T (p.Arg341Trp) rs147110861 0.00051
NM_001040167.2(LFNG):c.312C>T (p.Arg104=) rs552455490 0.00050
NM_001040167.2(LFNG):c.482-3C>T rs199745512 0.00047
NM_001040167.2(LFNG):c.573C>T (p.Ser191=) rs139864844 0.00046
NM_001040167.2(LFNG):c.735+9C>T rs202171160 0.00043
NM_001040167.2(LFNG):c.100C>A (p.Pro34Thr) rs965725102 0.00034
NM_001040167.2(LFNG):c.723C>T (p.Ser241=) rs115678269 0.00033
NM_001040167.2(LFNG):c.920G>A (p.Arg307His) rs201791522 0.00021
NM_001040167.2(LFNG):c.715C>T (p.Arg239Trp) rs143479850 0.00019
NM_001040167.2(LFNG):c.988-12C>T rs200232463 0.00019
NM_001040167.2(LFNG):c.284C>T (p.Ala95Val) rs765904263 0.00017
NM_001040167.2(LFNG):c.822-9C>G rs199661195 0.00017
NM_001040167.2(LFNG):c.1078C>T (p.Arg360Cys) rs763938391 0.00014
NM_001040167.2(LFNG):c.672C>T (p.Tyr224=) rs151012354 0.00012
NM_001040167.2(LFNG):c.1003G>A (p.Gly335Ser) rs764991226 0.00011
NM_001040167.2(LFNG):c.1074-16T>C rs143421936 0.00011
NM_001040167.2(LFNG):c.653C>T (p.Pro218Leu) rs148460430 0.00011
NM_001040167.2(LFNG):c.295G>A (p.Ala99Thr) rs903013824 0.00010
NM_001040167.2(LFNG):c.546C>T (p.Ala182=) rs369411514 0.00010
NM_001040167.2(LFNG):c.480G>A (p.Thr160=) rs151053753 0.00009
NM_001040167.2(LFNG):c.581+9G>T rs202046384 0.00009
NM_001040167.2(LFNG):c.559C>T (p.Arg187Cys) rs764283232 0.00008
NM_001040167.2(LFNG):c.37C>G (p.Leu13Val) rs1425455790 0.00007
NM_001040167.2(LFNG):c.402G>T (p.Leu134=) rs534958709 0.00007
NM_001040167.2(LFNG):c.479C>T (p.Thr160Met) rs769574441 0.00007
NM_001040167.2(LFNG):c.609C>T (p.Asn203=) rs143930715 0.00007
NM_001040167.2(LFNG):c.1026C>T (p.Asn342=) rs756592084 0.00006
NM_001040167.2(LFNG):c.1063G>A (p.Asp355Asn) rs780649312 0.00006
NM_001040167.2(LFNG):c.1123C>T (p.Arg375Cys) rs746683505 0.00006
NM_001040167.2(LFNG):c.266G>T (p.Gly89Val) rs938320862 0.00006
NM_001040167.2(LFNG):c.316C>T (p.Leu106=) rs761785878 0.00006
NM_001040167.2(LFNG):c.368A>G (p.Lys123Arg) rs758997792 0.00006
NM_001040167.2(LFNG):c.481+10G>C rs763736744 0.00006
NM_001040167.2(LFNG):c.673G>A (p.Val225Ile) rs76051534 0.00006
NM_001040167.2(LFNG):c.696G>A (p.Arg232=) rs772432543 0.00006
NM_001040167.2(LFNG):c.823G>A (p.Gly275Arg) rs771781393 0.00006
NM_001040167.2(LFNG):c.988-11G>A rs199722773 0.00006
NM_001040167.2(LFNG):c.1053G>A (p.Ser351=) rs751281684 0.00005
NM_001040167.2(LFNG):c.737G>A (p.Arg246His) rs374389689 0.00005
NM_001040167.2(LFNG):c.1124G>A (p.Arg375His) rs770669804 0.00004
NM_001040167.2(LFNG):c.567C>T (p.Ile189=) rs572875855 0.00004
NM_001040167.2(LFNG):c.594C>T (p.His198=) rs571692564 0.00004
NM_001040167.2(LFNG):c.600C>T (p.Asp200=) rs759542824 0.00004
NM_001040167.2(LFNG):c.661C>T (p.Arg221Trp) rs377387325 0.00004
NM_001040167.2(LFNG):c.736-15T>G rs199510750 0.00004
NM_001040167.2(LFNG):c.1059G>A (p.Glu353=) rs761502412 0.00003
NM_001040167.2(LFNG):c.557A>G (p.Asp186Gly) rs753021502 0.00003
NM_001040167.2(LFNG):c.635G>A (p.Arg212Gln) rs760610052 0.00003
NM_001040167.2(LFNG):c.6C>A (p.Leu2=) rs1390203183 0.00003
NM_001040167.2(LFNG):c.821+8C>T rs200827566 0.00003
NM_001040167.2(LFNG):c.822-5C>T rs373907631 0.00003
NM_001040167.2(LFNG):c.1022G>A (p.Arg341Gln) rs201290357 0.00002
NM_001040167.2(LFNG):c.1032C>T (p.Val344=) rs748395052 0.00002
NM_001040167.2(LFNG):c.327G>T (p.Pro109=) rs376342763 0.00002
NM_001040167.2(LFNG):c.506C>T (p.Ser169Leu) rs371707730 0.00002
NM_001040167.2(LFNG):c.521G>A (p.Arg174His) rs771675182 0.00002
NM_001040167.2(LFNG):c.582-10T>C rs1249078709 0.00002
NM_001040167.2(LFNG):c.768C>T (p.Gly256=) rs113634524 0.00002
NM_001040167.2(LFNG):c.870C>T (p.Asp290=) rs757292451 0.00002
NM_001040167.2(LFNG):c.924C>T (p.Ser308=) rs765338425 0.00002
NM_001040167.2(LFNG):c.988-16C>T rs376736772 0.00002
NM_001040167.2(LFNG):c.1140G>A (p.Ter380=) rs1780013685 0.00001
NM_001040167.2(LFNG):c.213G>A (p.Val71=) rs1446332005 0.00001
NM_001040167.2(LFNG):c.287C>G (p.Pro96Arg) rs1468105982 0.00001
NM_001040167.2(LFNG):c.308C>T (p.Pro103Leu) rs747331172 0.00001
NM_001040167.2(LFNG):c.369A>C (p.Lys123Asn) rs1779752729 0.00001
NM_001040167.2(LFNG):c.527C>T (p.Ala176Val) rs376234607 0.00001
NM_001040167.2(LFNG):c.547G>A (p.Val183Met) rs527357436 0.00001
NM_001040167.2(LFNG):c.560G>A (p.Arg187His) rs372894218 0.00001
NM_001040167.2(LFNG):c.57C>T (p.Ala19=) rs1779736182 0.00001
NM_001040167.2(LFNG):c.643G>A (p.Ala215Thr) rs1160316709 0.00001
NM_001040167.2(LFNG):c.736-18C>T rs375297351 0.00001
NM_001040167.2(LFNG):c.766G>A (p.Gly256Ser) rs1437427476 0.00001
NM_001040167.2(LFNG):c.812C>T (p.Pro271Leu) rs763392875 0.00001
NM_001040167.2(LFNG):c.821+9C>T rs1223314866 0.00001
NM_001040167.2(LFNG):c.842C>T (p.Thr281Met) rs760970272 0.00001
NM_001040167.2(LFNG):c.987G>A (p.Gln329=) rs1779976779 0.00001
NC_000007.13:g.(?_2559496)_(2587132_?)dup
NM_001040167.2(LFNG):c.1005_1013dup (p.Phe337_Glu338insAspMetPhe)
NM_001040167.2(LFNG):c.1008G>A (p.Met336Ile)
NM_001040167.2(LFNG):c.1013A>T (p.Glu338Val) rs770620949
NM_001040167.2(LFNG):c.1029C>G (p.Ala343=)
NM_001040167.2(LFNG):c.1029C>T (p.Ala343=)
NM_001040167.2(LFNG):c.102C>G (p.Pro34=)
NM_001040167.2(LFNG):c.1036G>A (p.Val346Met) rs71647813
NM_001040167.2(LFNG):c.1036G>C (p.Val346Leu) rs71647813
NM_001040167.2(LFNG):c.105C>T (p.Ala35=) rs1779738077
NM_001040167.2(LFNG):c.1073+14G>A
NM_001040167.2(LFNG):c.1074-11T>C
NM_001040167.2(LFNG):c.1074-19C>T
NM_001040167.2(LFNG):c.10C>G (p.Arg4Gly) rs1341252096
NM_001040167.2(LFNG):c.10C>T (p.Arg4Cys)
NM_001040167.2(LFNG):c.1101C>T (p.Tyr367=)
NM_001040167.2(LFNG):c.1104G>A (p.Pro368=) rs544123371
NM_001040167.2(LFNG):c.112G>T (p.Gly38Cys)
NM_001040167.2(LFNG):c.123G>A (p.Ala41=)
NM_001040167.2(LFNG):c.126G>A (p.Leu42=)
NM_001040167.2(LFNG):c.131G>T (p.Ser44Ile) rs1369297768
NM_001040167.2(LFNG):c.137C>T (p.Ala46Val)
NM_001040167.2(LFNG):c.140G>A (p.Gly47Asp) rs1322872527
NM_001040167.2(LFNG):c.157C>G (p.Pro53Ala)
NM_001040167.2(LFNG):c.183G>A (p.Ala61=)
NM_001040167.2(LFNG):c.197_198delinsTT (p.Ala66Val) rs1562551243
NM_001040167.2(LFNG):c.214C>T (p.His72Tyr) rs1779742939
NM_001040167.2(LFNG):c.216_217del (p.His72fs)
NM_001040167.2(LFNG):c.222G>C (p.Leu74=)
NM_001040167.2(LFNG):c.225C>A (p.Ser75=) rs1047044671
NM_001040167.2(LFNG):c.234C>T (p.Phe78=)
NM_001040167.2(LFNG):c.237C>T (p.Ser79=)
NM_001040167.2(LFNG):c.245C>A (p.Thr82Asn) rs1405255261
NM_001040167.2(LFNG):c.246C>T (p.Thr82=)
NM_001040167.2(LFNG):c.264G>A (p.Ala88=) rs1779745228
NM_001040167.2(LFNG):c.271C>T (p.Pro91Ser)
NM_001040167.2(LFNG):c.285C>G (p.Ala95=) rs1159608993
NM_001040167.2(LFNG):c.294C>T (p.Pro98=)
NM_001040167.2(LFNG):c.299A>T (p.Asp100Val)
NM_001040167.2(LFNG):c.306C>A (p.His102Gln)
NM_001040167.2(LFNG):c.306C>T (p.His102=)
NM_001040167.2(LFNG):c.307C>G (p.Pro103Ala) rs778333281
NM_001040167.2(LFNG):c.334C>A (p.Pro112Thr)
NM_001040167.2(LFNG):c.363C>T (p.Thr121=)
NM_001040167.2(LFNG):c.372del (p.Lys124fs) rs1562551396
NM_001040167.2(LFNG):c.393C>T (p.Asp131=)
NM_001040167.2(LFNG):c.41C>G (p.Ala14Gly)
NM_001040167.2(LFNG):c.420C>G (p.Arg140=)
NM_001040167.2(LFNG):c.432+11C>G
NM_001040167.2(LFNG):c.432+12G>A rs2128375237
NM_001040167.2(LFNG):c.432+16C>T
NM_001040167.2(LFNG):c.432+19G>T rs536716091
NM_001040167.2(LFNG):c.433-12T>A
NM_001040167.2(LFNG):c.433-18C>T rs2128376861
NM_001040167.2(LFNG):c.434C>A (p.Thr145Lys) rs1413169361
NM_001040167.2(LFNG):c.434C>T (p.Thr145Met)
NM_001040167.2(LFNG):c.443dup (p.Thr149fs)
NM_001040167.2(LFNG):c.46G>A (p.Ala16Thr) rs1779735531
NM_001040167.2(LFNG):c.481+16G>C
NM_001040167.2(LFNG):c.481+20C>T
NM_001040167.2(LFNG):c.486C>T (p.Asn162=)
NM_001040167.2(LFNG):c.501C>T (p.Asn167=)
NM_001040167.2(LFNG):c.508G>A (p.Ala170Thr)
NM_001040167.2(LFNG):c.528G>A (p.Ala176=)
NM_001040167.2(LFNG):c.549G>A (p.Val183=)
NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu) rs104894024
NM_001040167.2(LFNG):c.566T>C (p.Ile189Thr) rs984175416
NM_001040167.2(LFNG):c.568G>A (p.Glu190Lys)
NM_001040167.2(LFNG):c.569A>T (p.Glu190Val)
NM_001040167.2(LFNG):c.581+15G>T
NM_001040167.2(LFNG):c.581+18G>A
NM_001040167.2(LFNG):c.581+7G>A rs1428513145
NM_001040167.2(LFNG):c.601G>A (p.Asp201Asn) rs1211456697
NM_001040167.2(LFNG):c.620T>A (p.Leu207Gln)
NM_001040167.2(LFNG):c.637C>T (p.Leu213=)
NM_001040167.2(LFNG):c.654G>A (p.Pro218=)
NM_001040167.2(LFNG):c.659C>T (p.Thr220Met)
NM_001040167.2(LFNG):c.661C>A (p.Arg221=) rs377387325
NM_001040167.2(LFNG):c.666C>T (p.Asp222=)
NM_001040167.2(LFNG):c.675C>T (p.Val225=)
NM_001040167.2(LFNG):c.67G>T (p.Val23Leu) rs2128375068
NM_001040167.2(LFNG):c.716G>A (p.Arg239Gln)
NM_001040167.2(LFNG):c.735+10T>G rs2128377425
NM_001040167.2(LFNG):c.735+13C>T
NM_001040167.2(LFNG):c.736-12C>T
NM_001040167.2(LFNG):c.736-15_736-13del rs750925231
NM_001040167.2(LFNG):c.736-2A>G
NM_001040167.2(LFNG):c.741T>C (p.Pro247=)
NM_001040167.2(LFNG):c.747C>T (p.His249=)
NM_001040167.2(LFNG):c.761C>T (p.Thr254Met) rs2128377515
NM_001040167.2(LFNG):c.765C>T (p.Gly255=)
NM_001040167.2(LFNG):c.780C>T (p.Cys260=)
NM_001040167.2(LFNG):c.788G>A (p.Arg263His) rs201864741
NM_001040167.2(LFNG):c.788G>T (p.Arg263Leu) rs201864741
NM_001040167.2(LFNG):c.810C>A (p.Ser270Arg) rs764879786
NM_001040167.2(LFNG):c.822-18G>C
NM_001040167.2(LFNG):c.822-19G>A
NM_001040167.2(LFNG):c.822-20del
NM_001040167.2(LFNG):c.822-6C>A
NM_001040167.2(LFNG):c.826G>C (p.Gly276Arg)
NM_001040167.2(LFNG):c.843G>A (p.Thr281=) rs766719689
NM_001040167.2(LFNG):c.84G>T (p.Pro28=)
NM_001040167.2(LFNG):c.856C>T (p.Arg286Trp)
NM_001040167.2(LFNG):c.879C>T (p.Ile293=)
NM_001040167.2(LFNG):c.882C>T (p.Gly294=)
NM_001040167.2(LFNG):c.898C>T (p.Leu300=)
NM_001040167.2(LFNG):c.913C>T (p.Leu305Phe)
NM_001040167.2(LFNG):c.927C>T (p.Gly309=)
NM_001040167.2(LFNG):c.92C>T (p.Pro31Leu)
NM_001040167.2(LFNG):c.951C>A (p.Asn317Lys) rs1464471879
NM_001040167.2(LFNG):c.981C>T (p.His327=)
NM_001040167.2(LFNG):c.984G>A (p.Glu328=)
NM_001040167.2(LFNG):c.987+12T>C rs2128377847
NM_001040167.2(LFNG):c.987+16_987+33del
NM_001040167.2(LFNG):c.987+17G>T
NM_001040167.2(LFNG):c.993G>A (p.Thr331=)

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