ClinVar Miner

List of variants studied for rhizomelic chondrodysplasia punctata

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 535
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HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.340-71G>A rs927181 0.98050
NM_003659.4(AGPS):c.1362+79G>A rs12468046 0.87026
NM_003659.4(AGPS):c.442-64C>T rs3754989 0.85863
NM_003659.4(AGPS):c.*1866A>G rs10930795 0.83889
NM_003659.4(AGPS):c.*4253C>A rs10803912 0.83746
NM_003659.4(AGPS):c.*4974T>C rs2293475 0.83675
NM_003659.4(AGPS):c.*3558C>T rs8941 0.72163
NM_014236.4(GNPAT):c.915G>A (p.Glu305=) rs574553 0.58786
NM_003659.4(AGPS):c.1608-95T>A rs2364854 0.57249
NM_014236.4(GNPAT):c.-44C>T rs518686 0.54529
NM_000288.4(PEX7):c.*306T>G rs1050803 0.51106
NM_000288.4(PEX7):c.130+48_130+53dup rs11283064 0.50803
NM_001351132.2(PEX5):c.967-26C>G rs3816424 0.29645
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15938
NM_000288.4(PEX7):c.-56C>T rs73777751 0.11791
NM_003659.4(AGPS):c.*4516_*4517del rs3215354 0.11154
NM_003659.4(AGPS):c.*1866_*1867del rs761041008 0.11055
NM_000288.4(PEX7):c.340-103A>G rs2295592 0.10001
NM_003659.4(AGPS):c.1856-16G>T rs3213945 0.08514
NM_000288.4(PEX7):c.803+105A>C rs72985582 0.04283
NM_003659.4(AGPS):c.*4821C>T rs28576781 0.03281
NM_000288.4(PEX7):c.-31G>A rs115866467 0.02411
NM_003659.4(AGPS):c.207A>G (p.Ala69=) rs34744592 0.02410
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_003659.4(AGPS):c.*2636G>C rs77450843 0.02159
NM_003659.4(AGPS):c.*4618A>G rs75827012 0.02017
NM_003659.4(AGPS):c.261-5A>C rs73029113 0.01813
NM_014236.4(GNPAT):c.26C>T (p.Ser9Phe) rs113480953 0.01765
NM_003659.4(AGPS):c.*552T>G rs115060780 0.01756
NM_003659.4(AGPS):c.*1106A>T rs116688077 0.01515
NM_003659.4(AGPS):c.1173C>G (p.Gly391=) rs115580413 0.01496
NM_014236.4(GNPAT):c.1483G>A (p.Val495Ile) rs11122266 0.01237
NM_014236.4(GNPAT):c.-84C>T rs112452735 0.01229
NM_014236.4(GNPAT):c.1479C>T (p.Ser493=) rs35033351 0.01197
NM_014236.4(GNPAT):c.925-17del rs149282848 0.01076
NM_003659.4(AGPS):c.147C>T (p.Pro49=) rs34442536 0.01033
NM_014236.4(GNPAT):c.525A>G (p.Leu175=) rs6659098 0.01020
NM_003659.4(AGPS):c.*1701T>C rs189318576 0.00996
NM_014236.4(GNPAT):c.-145G>A rs113752547 0.00739
NM_003659.4(AGPS):c.1704G>A (p.Thr568=) rs36052691 0.00710
NM_003659.4(AGPS):c.*3894A>G rs74988186 0.00708
NM_003659.4(AGPS):c.*1719G>A rs182366015 0.00706
NM_003659.4(AGPS):c.*1364A>G rs144780787 0.00608
NM_003659.4(AGPS):c.*3971A>G rs150179488 0.00605
NM_003659.4(AGPS):c.*4098C>T rs115549933 0.00496
NM_003659.4(AGPS):c.*1884A>G rs886055190 0.00467
NM_003659.4(AGPS):c.*3381G>A rs190466352 0.00412
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_003659.4(AGPS):c.*2091T>C rs16865338 0.00368
NM_003659.4(AGPS):c.*385G>C rs114266155 0.00346
NM_014236.4(GNPAT):c.555A>T (p.Ile185=) rs34613633 0.00339
NM_003659.4(AGPS):c.1698-14T>C rs113523500 0.00324
NM_003659.4(AGPS):c.*4232A>G rs145593745 0.00314
NM_003659.4(AGPS):c.*5124C>T rs145417594 0.00286
NM_003659.4(AGPS):c.*4255T>G rs190967028 0.00272
NM_003659.4(AGPS):c.*5609G>A rs191948308 0.00267
NM_003659.4(AGPS):c.*4780G>A rs542429122 0.00264
NM_003659.4(AGPS):c.*2548A>G rs76966937 0.00233
NM_000288.4(PEX7):c.*38G>A rs41288965 0.00188
NM_014236.4(GNPAT):c.629G>A (p.Arg210Gln) rs142283145 0.00185
NM_003659.4(AGPS):c.1233+5A>G rs370777451 0.00181
NM_014236.4(GNPAT):c.1056-20C>A rs114267453 0.00176
NM_003659.4(AGPS):c.*206T>C rs74536999 0.00171
NM_000288.3(PEX7):c.-77T>C rs1321472 0.00160
NM_014236.4(GNPAT):c.925-16G>A rs41305723 0.00157
NM_003659.4(AGPS):c.1233+14T>A rs60463897 0.00154
NM_003659.4(AGPS):c.*4996C>T rs183868732 0.00149
NM_000288.4(PEX7):c.*272A>G rs186705952 0.00145
NM_003659.4(AGPS):c.*731A>G rs185715744 0.00119
NM_014236.4(GNPAT):c.1212T>C (p.Ala404=) rs143205045 0.00110
NM_014236.4(GNPAT):c.65T>C (p.Val22Ala) rs143388851 0.00101
NM_003659.4(AGPS):c.*4132A>G rs544412431 0.00098
NM_003659.4(AGPS):c.*1858A>G rs868072755 0.00096
NM_014236.4(GNPAT):c.*45C>T rs190670284 0.00093
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_003659.4(AGPS):c.*3931A>G rs190151334 0.00077
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_003659.4(AGPS):c.*921A>G rs555058166 0.00072
NM_003659.4(AGPS):c.1086C>T (p.His362=) rs138280491 0.00072
NM_003659.4(AGPS):c.*3045C>T rs147676340 0.00071
NM_003659.4(AGPS):c.64G>A (p.Ala22Thr) rs759572190 0.00069
NM_003659.4(AGPS):c.*865A>G rs2293470 0.00066
NM_003659.4(AGPS):c.1380A>C (p.Pro460=) rs148418568 0.00062
NM_003659.4(AGPS):c.637+13C>T rs182602770 0.00060
NM_003659.4(AGPS):c.*2437A>G rs561448661 0.00059
NM_003659.4(AGPS):c.*3262C>A rs115216884 0.00058
NM_003659.4(AGPS):c.54C>T (p.Ser18=) rs774742400 0.00057
NM_000288.4(PEX7):c.418-4G>T rs199552223 0.00054
NM_000288.4(PEX7):c.128C>T (p.Ala43Val) rs780369944 0.00052
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) rs146567534 0.00047
NM_003659.4(AGPS):c.*2833G>T rs563411002 0.00041
NM_003659.4(AGPS):c.*469A>T rs3171913 0.00041
NM_003659.4(AGPS):c.*5453C>T rs560420420 0.00038
NM_003659.4(AGPS):c.231G>A (p.Ala77=) rs576982787 0.00037
NM_014236.4(GNPAT):c.1095T>C (p.Phe365=) rs139272614 0.00036
NM_014236.4(GNPAT):c.1892C>T (p.Ala631Val) rs142487190 0.00036
NM_003659.4(AGPS):c.148C>T (p.Arg50Trp) rs778087162 0.00034
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118 0.00032
NM_003659.4(AGPS):c.*2730G>A rs557473958 0.00032
NM_003659.4(AGPS):c.*428C>T rs574178840 0.00032
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala) rs560217758 0.00031
NM_003659.4(AGPS):c.65C>G (p.Ala22Gly) rs767584572 0.00029
NM_003659.4(AGPS):c.*2455C>T rs376557428 0.00027
NM_003659.4(AGPS):c.*683A>G rs749195776 0.00027
NM_003659.4(AGPS):c.*378G>A rs886055170 0.00026
NM_014236.4(GNPAT):c.1043A>G (p.Asn348Ser) rs201538200 0.00025
NM_014236.4(GNPAT):c.286G>T (p.Val96Leu) rs139378588 0.00025
NM_003659.4(AGPS):c.*5465C>T rs886055199 0.00024
NM_003659.4(AGPS):c.*2621C>T rs550196684 0.00021
NM_003659.4(AGPS):c.951C>T (p.Arg317=) rs146526791 0.00021
NM_000288.4(PEX7):c.188+3A>G rs200234391 0.00019
NM_003659.4(AGPS):c.*4885A>G rs886055196 0.00019
NM_014236.4(GNPAT):c.1307C>T (p.Pro436Leu) rs757791949 0.00019
NM_014236.4(GNPAT):c.608T>A (p.Met203Lys) rs779199619 0.00019
NM_003659.4(AGPS):c.*1744A>G rs540754346 0.00018
NM_003659.4(AGPS):c.*4100A>G rs187827630 0.00016
NM_014236.4(GNPAT):c.1744-13C>T rs188474049 0.00016
NM_014236.4(GNPAT):c.1072C>A (p.Gln358Lys) rs200830930 0.00014
NM_014236.4(GNPAT):c.57C>T (p.Ser19=) rs199844062 0.00014
NM_014236.4(GNPAT):c.747T>C (p.Ser249=) rs202033127 0.00014
NM_000288.3(PEX7):c.-91G>A rs772358439 0.00013
NM_014236.4(GNPAT):c.1890C>T (p.Asn630=) rs201916449 0.00013
NM_000288.4(PEX7):c.44C>T (p.Pro15Leu) rs925593750 0.00011
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_001376.5(DYNC1H1):c.8200G>A (p.Val2734Met) rs376679623 0.00011
NM_003659.4(AGPS):c.*3606A>G rs370112990 0.00011
NM_003659.4(AGPS):c.*823T>A rs187354423 0.00011
NM_003659.4(AGPS):c.157C>T (p.Leu53=) rs77810072 0.00011
NM_014236.4(GNPAT):c.-47C>A rs201907247 0.00011
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_003659.4(AGPS):c.*4056T>C rs377375306 0.00010
NM_003659.4(AGPS):c.*5072T>G rs552637479 0.00010
NM_003659.4(AGPS):c.*1865C>T rs62182698 0.00009
NM_003659.4(AGPS):c.*560T>A rs867873949 0.00009
NM_003659.4(AGPS):c.1029T>C (p.Gly343=) rs368667324 0.00009
NM_003659.4(AGPS):c.*1238T>C rs899137263 0.00008
NM_003659.4(AGPS):c.1475+12A>G rs375684020 0.00008
NM_003659.4(AGPS):c.921C>T (p.Phe307=) rs138275695 0.00008
NM_003659.4(AGPS):c.*1105T>A rs188611962 0.00007
NM_003659.4(AGPS):c.*4674A>G rs1046647430 0.00007
NM_003659.4(AGPS):c.1797+11A>G rs375071040 0.00007
NM_014236.4(GNPAT):c.-82G>T rs748285545 0.00007
NM_014236.4(GNPAT):c.1280-8G>A rs776118687 0.00007
NM_000288.4(PEX7):c.*115A>G rs41288967 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000288.4(PEX7):c.418-3T>C rs770117560 0.00006
NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile) rs145886418 0.00006
NM_001351132.2(PEX5):c.230G>A (p.Arg77His) rs780957318 0.00006
NM_003659.4(AGPS):c.*1073T>C rs1026415952 0.00006
NM_003659.4(AGPS):c.*1424G>A rs975289225 0.00006
NM_003659.4(AGPS):c.*1628C>G rs535440679 0.00006
NM_003659.4(AGPS):c.*2311G>A rs528583770 0.00006
NM_003659.4(AGPS):c.*2667G>C rs571741614 0.00006
NM_014236.4(GNPAT):c.*123A>G rs537905640 0.00006
NM_014236.4(GNPAT):c.1007C>A (p.Ser336Tyr) rs373497748 0.00006
NM_014236.4(GNPAT):c.1031G>A (p.Arg344Gln) rs375611364 0.00006
NM_014236.4(GNPAT):c.1453C>T (p.Leu485=) rs370837823 0.00006
NM_014236.4(GNPAT):c.1810G>A (p.Val604Ile) rs552693336 0.00006
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_003659.4(AGPS):c.1539C>T (p.Tyr513=) rs980211710 0.00005
NM_003659.4(AGPS):c.35G>A (p.Gly12Asp) rs557931141 0.00005
NM_014236.4(GNPAT):c.1308G>A (p.Pro436=) rs151138534 0.00005
NM_000288.4(PEX7):c.171G>C (p.Gly57=) rs750791932 0.00004
NM_000288.4(PEX7):c.203A>T (p.Asp68Val) rs763388501 0.00004
NM_000288.4(PEX7):c.467G>A (p.Ser156Asn) rs1554331549 0.00004
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245 0.00004
NM_000288.4(PEX7):c.804-5C>T rs369653173 0.00004
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys) rs201106072 0.00004
NM_003659.4(AGPS):c.*3977T>G rs886055194 0.00004
NM_003659.4(AGPS):c.*794C>T rs912813369 0.00004
NM_003659.4(AGPS):c.1335C>T (p.Asp445=) rs200039061 0.00004
NM_003659.4(AGPS):c.1569A>G (p.Val523=) rs150977180 0.00004
NM_014236.4(GNPAT):c.-6C>T rs370992541 0.00004
NM_014236.4(GNPAT):c.1482A>G (p.Leu494=) rs894887033 0.00004
NM_014236.4(GNPAT):c.1713A>G (p.Gly571=) rs748279875 0.00004
NM_014236.4(GNPAT):c.917C>G (p.Ser306Cys) rs150822308 0.00004
NM_014236.4(GNPAT):c.988G>T (p.Asp330Tyr) rs201563848 0.00004
NM_000288.4(PEX7):c.*223T>A rs774681133 0.00003
NM_000288.4(PEX7):c.116A>C (p.His39Pro) rs61753237 0.00003
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851 0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000288.4(PEX7):c.803+5A>G rs759078908 0.00003
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291 0.00003
NM_000288.4(PEX7):c.903+8A>G rs779919482 0.00003
NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter) rs61752137 0.00003
NM_003659.4(AGPS):c.*2088T>G rs529240564 0.00003
NM_003659.4(AGPS):c.*3060A>G rs886055192 0.00003
NM_003659.4(AGPS):c.*3073A>G rs532442888 0.00003
NM_003659.4(AGPS):c.1209C>T (p.Ala403=) rs761638262 0.00003
NM_003659.4(AGPS):c.1244C>T (p.Pro415Leu) rs144444120 0.00003
NM_003659.4(AGPS):c.1855+6C>A rs772552134 0.00003
NM_003659.4(AGPS):c.870G>A (p.Gln290=) rs534985206 0.00003
NM_014236.4(GNPAT):c.-153A>C rs537119013 0.00003
NM_000288.4(PEX7):c.244G>A (p.Val82Ile) rs770777194 0.00002
NM_000288.4(PEX7):c.413A>G (p.Lys138Arg) rs762113236 0.00002
NM_000288.4(PEX7):c.629A>G (p.Asn210Ser) rs753193218 0.00002
NM_001351132.2(PEX5):c.664A>G (p.Ile222Val) rs778800705 0.00002
NM_003659.4(AGPS):c.*513T>C rs886055172 0.00002
NM_003659.4(AGPS):c.1135A>G (p.Ile379Val) rs867493363 0.00002
NM_003659.4(AGPS):c.1245G>A (p.Pro415=) rs200344160 0.00002
NM_014236.4(GNPAT):c.1648C>G (p.Gln550Glu) rs761578510 0.00002
NM_014236.4(GNPAT):c.2021A>T (p.Lys674Ile) rs756465630 0.00002
NM_014236.4(GNPAT):c.706G>C (p.Ala236Pro) rs758663178 0.00002
NM_014236.4(GNPAT):c.798A>G (p.Pro266=) rs371142386 0.00002
NM_014236.4(GNPAT):c.924+4C>T rs372291680 0.00002
NM_000288.4(PEX7):c.-28G>A rs376808803 0.00001
NM_000288.4(PEX7):c.115C>A (p.His39Asn) rs1316023843 0.00001
NM_000288.4(PEX7):c.129G>C (p.Ala43=) rs1256466654 0.00001
NM_000288.4(PEX7):c.130+1G>A rs267608253 0.00001
NM_000288.4(PEX7):c.188+1G>C rs267608254 0.00001
NM_000288.4(PEX7):c.193G>A (p.Asp65Asn) rs1229970963 0.00001
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg) rs367806635 0.00001
NM_000288.4(PEX7):c.297A>G (p.Lys99=) rs766858149 0.00001
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154 0.00001
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys) rs769137963 0.00001
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248 0.00001
NM_000288.4(PEX7):c.496C>T (p.His166Tyr) rs1219430310 0.00001
NM_000288.4(PEX7):c.554T>C (p.Val185Ala) rs1424846175 0.00001
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) rs764924345 0.00001
NM_000288.4(PEX7):c.681C>T (p.Asp227=) rs1236779327 0.00001
NM_000288.4(PEX7):c.701C>T (p.Pro234Leu) rs759158962 0.00001
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys) rs780186421 0.00001
NM_000288.4(PEX7):c.748-10T>C rs886061122 0.00001
NM_000288.4(PEX7):c.785C>T (p.Ser262Leu) rs62653610 0.00001
NM_000288.4(PEX7):c.803+4C>G rs759745913 0.00001
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764 0.00001
NM_000288.4(PEX7):c.854A>G (p.His285Arg) rs62653611 0.00001
NM_000288.4(PEX7):c.961A>G (p.Ile321Val) rs879706210 0.00001
NM_000288.4(PEX7):c.96G>A (p.Leu32=) rs1397119638 0.00001
NM_001351132.2(PEX5):c.1258C>T (p.Arg420Ter) rs777735499 0.00001
NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn) rs201963167 0.00001
NM_003659.4(AGPS):c.*165T>A rs886055169 0.00001
NM_003659.4(AGPS):c.*2487C>T rs537655173 0.00001
NM_003659.4(AGPS):c.*3953A>G rs886055193 0.00001
NM_003659.4(AGPS):c.*4910C>T rs886055197 0.00001
NM_003659.4(AGPS):c.*5026C>T rs560345041 0.00001
NM_003659.4(AGPS):c.*5155C>T rs886055198 0.00001
NM_003659.4(AGPS):c.*641T>C rs886055173 0.00001
NM_003659.4(AGPS):c.-14A>G rs752946440 0.00001
NM_003659.4(AGPS):c.108G>A (p.Arg36=) rs886055163 0.00001
NM_003659.4(AGPS):c.141C>A (p.Gly47=) rs1345248171 0.00001
NM_003659.4(AGPS):c.1437A>G (p.Gln479=) rs753932510 0.00001
NM_003659.4(AGPS):c.14C>T (p.Ala5Val) rs1233318758 0.00001
NM_003659.4(AGPS):c.1519C>T (p.Leu507=) rs761831871 0.00001
NM_003659.4(AGPS):c.1665G>A (p.Lys555=) rs759313804 0.00001
NM_003659.4(AGPS):c.1713C>T (p.Tyr571=) rs773126499 0.00001
NM_003659.4(AGPS):c.186A>G (p.Arg62=) rs990214554 0.00001
NM_003659.4(AGPS):c.1908T>C (p.Phe636=) rs765895661 0.00001
NM_003659.4(AGPS):c.200C>T (p.Ala67Val) rs1454806934 0.00001
NM_003659.4(AGPS):c.354C>T (p.Tyr118=) rs200594024 0.00001
NM_003659.4(AGPS):c.40G>T (p.Gly14Cys) rs1217837187 0.00001
NM_003659.4(AGPS):c.57C>T (p.Tyr19=) rs1346009699 0.00001
NM_003659.4(AGPS):c.83A>T (p.Asp28Val) rs764286061 0.00001
NM_014236.4(GNPAT):c.*338A>G rs1313858069 0.00001
NM_014236.4(GNPAT):c.*389G>A rs886046094 0.00001
NM_014236.4(GNPAT):c.*399G>C rs1209530835 0.00001
NM_014236.4(GNPAT):c.-147G>C rs868789232 0.00001
NM_014236.4(GNPAT):c.1044C>T (p.Asn348=) rs760847656 0.00001
NM_014236.4(GNPAT):c.1353C>G (p.Asp451Glu) rs749596302 0.00001
NM_014236.4(GNPAT):c.1428C>T (p.Leu476=) rs1369256964 0.00001
NM_014236.4(GNPAT):c.1488A>G (p.Ala496=) rs886046092 0.00001
NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys) rs121434440 0.00001
NM_014236.4(GNPAT):c.632G>A (p.Arg211His) rs121434439 0.00001
NM_014236.4(GNPAT):c.742C>T (p.Arg248Cys) rs1442079596 0.00001
NM_014236.4(GNPAT):c.930G>A (p.Leu310=) rs2296166 0.00001
NC_000002.11:g.(178362494_178364345)_(178372760_178378546)del
NM_000288.3(PEX7):c.-88T>C rs886061115
NM_000288.4(PEX7):c.*124A>G rs112796869
NM_000288.4(PEX7):c.*257_*258insAGT rs1801001
NM_000288.4(PEX7):c.*305C>A rs567568009
NM_000288.4(PEX7):c.*305C>T rs567568009
NM_000288.4(PEX7):c.*305_*310del rs886061123
NM_000288.4(PEX7):c.*367T>C rs886061124
NM_000288.4(PEX7):c.-18C>T rs991168664
NM_000288.4(PEX7):c.-35G>A rs886061116
NM_000288.4(PEX7):c.-3G>A rs886061117
NM_000288.4(PEX7):c.-46_-38dup rs1554328233
NM_000288.4(PEX7):c.-65A>T rs190537612
NM_000288.4(PEX7):c.-69C>A rs528948146
NM_000288.4(PEX7):c.-95T>C rs1321471
NM_000288.4(PEX7):c.121G>C (p.Gly41Arg) rs1210968366
NM_000288.4(PEX7):c.122G>T (p.Gly41Val) rs61753239
NM_000288.4(PEX7):c.122_123del (p.Gly41fs)
NM_000288.4(PEX7):c.130+11G>T rs886061119
NM_000288.4(PEX7):c.130+13C>A rs886061120
NM_000288.4(PEX7):c.130+1G>C rs267608253
NM_000288.4(PEX7):c.130+32_130+51del rs1554328334
NM_000288.4(PEX7):c.131-2A>G rs1554328790
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.188+1G>A rs267608254
NM_000288.4(PEX7):c.188+1del
NM_000288.4(PEX7):c.189-2A>G rs1554328952
NM_000288.4(PEX7):c.206del (p.Gly69fs)
NM_000288.4(PEX7):c.209dup (p.Leu70fs)
NM_000288.4(PEX7):c.225G>C (p.Trp75Cys) rs1554328961
NM_000288.4(PEX7):c.233del (p.Asn78fs) rs1582732852
NM_000288.4(PEX7):c.259dup (p.Ser87fs)
NM_000288.4(PEX7):c.26del (p.Ala9fs)
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.283T>G (p.Trp95Gly)
NM_000288.4(PEX7):c.294del (p.Ala100fs) rs1456007349
NM_000288.4(PEX7):c.297del (p.Ala100fs)
NM_000288.4(PEX7):c.316G>C (p.Val106Leu) rs886061121
NM_000288.4(PEX7):c.31_56del (p.Met11fs) rs1057516961
NM_000288.4(PEX7):c.323_324del (p.Lys108fs)
NM_000288.4(PEX7):c.330C>T (p.His110=) rs199648976
NM_000288.4(PEX7):c.331G>A (p.Ala111Thr) rs368225510
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter) rs62653604
NM_000288.4(PEX7):c.339+2T>C rs1057517059
NM_000288.4(PEX7):c.357G>A (p.Trp119Ter) rs1554331461
NM_000288.4(PEX7):c.373G>T (p.Glu125Ter) rs769137963
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter) rs2115170536
NM_000288.4(PEX7):c.37_45dup (p.Arg13_Pro15dup) rs1554328282
NM_000288.4(PEX7):c.38G>A (p.Arg13Gln) rs1220044805
NM_000288.4(PEX7):c.398G>A (p.Trp133Ter)
NM_000288.4(PEX7):c.400G>A (p.Asp134Asn) rs764346452
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.418-1G>A rs773406384
NM_000288.4(PEX7):c.449C>T (p.Thr150Ile) rs957954726
NM_000288.4(PEX7):c.45_52dup (p.His18fs) rs63535662
NM_000288.4(PEX7):c.463G>T (p.Glu155Ter)
NM_000288.4(PEX7):c.46_47del (p.Gly16fs)
NM_000288.4(PEX7):c.490T>C (p.Ser164Pro) rs62653607
NM_000288.4(PEX7):c.508del (p.Cys170fs) rs1057516827
NM_000288.4(PEX7):c.527-2A>G rs1057517339
NM_000288.4(PEX7):c.538_539del (p.Leu180fs) rs1582757650
NM_000288.4(PEX7):c.538del (p.Thr179_Leu180insTer) rs1554333636
NM_000288.4(PEX7):c.545dup (p.Trp183fs) rs1057516574
NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter) rs1057516882
NM_000288.4(PEX7):c.620_623delinsATACAGTCACAATGAGGT (p.Cys207fs)
NM_000288.4(PEX7):c.622A>T (p.Lys208Ter)
NM_000288.4(PEX7):c.632del (p.Glu211fs)
NM_000288.4(PEX7):c.633+1G>A rs1057516989
NM_000288.4(PEX7):c.633+2TA[3]
NM_000288.4(PEX7):c.638dup (p.Leu213fs)
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro) rs1554333880
NM_000288.4(PEX7):c.668T>A (p.Leu223Ter)
NM_000288.4(PEX7):c.682_683delinsA (p.Leu228fs)
NM_000288.4(PEX7):c.693A>G (p.Val231=) rs1582759944
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000288.4(PEX7):c.719del (p.Gly240fs)
NM_000288.4(PEX7):c.733A>T (p.Ile245Phe) rs750815894
NM_000288.4(PEX7):c.735dup (p.Arg246Ter) rs1582760004
NM_000288.4(PEX7):c.736_747+17del rs1057517257
NM_000288.4(PEX7):c.747+20_747+24del rs199624608
NM_000288.4(PEX7):c.748-2A>G rs778862698
NM_000288.4(PEX7):c.748-4G>T rs74658757
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.760C>T (p.His254Tyr) rs1775195476
NM_000288.4(PEX7):c.774_784del (p.Ala259fs) rs1057516824
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile) rs1452611618
NM_000288.4(PEX7):c.803+1G>A
NM_000288.4(PEX7):c.806dup (p.Trp270fs) rs1464766327
NM_000288.4(PEX7):c.817del (p.Ser273fs) rs1554335926
NM_000288.4(PEX7):c.81C>G (p.Tyr27Ter) rs1057516737
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe) rs1775685342
NM_000288.4(PEX7):c.858_867del (p.Glu287fs)
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln) rs267608257
NM_000288.4(PEX7):c.871_874del (p.Cys290_Gly291insTer) rs1554335937
NM_000288.4(PEX7):c.901C>T (p.Gln301Ter) rs374763007
NM_000288.4(PEX7):c.904-1G>A rs1413838301
NM_000288.4(PEX7):c.917C>T (p.Ser306Phe) rs267608258
NM_000288.4(PEX7):c.917del (p.Ser306fs) rs1554337182
NM_000288.4(PEX7):c.931del (p.Thr310_Ile311insTer) rs1554337188
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp) rs1184131500
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg) rs988988279
NM_000288.4(PEX7):c.970T>G (p.Ter324Gly) rs988988279
NM_000288.4(PEX7):c.971G>C (p.Ter324Ser) rs374574552
NM_000288.4(PEX7):c.9_18delinsAGTAGCGGG (p.Cys5fs)
NM_001351132.2(PEX5):c.1182_1183insATCAAACAGATCAAGC (p.Cys395fs)
NM_001351132.2(PEX5):c.1296C>G (p.Tyr432Ter)
NM_001351132.2(PEX5):c.135_147+33delinsC rs2135880243
NM_001351132.2(PEX5):c.147+4A>G
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001351132.2(PEX5):c.1488_1510del (p.Val496_Leu497insTer)
NM_001351132.2(PEX5):c.1578T>A (p.Asn526Lys)
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys) rs61752138
NM_001351132.2(PEX5):c.1819dup (p.Leu607fs)
NM_001351132.2(PEX5):c.420_421inv (p.Trp140_Ser141delinsTer)
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu) rs749729761
NM_001351132.2(PEX5):c.552G>A (p.Trp184Ter) rs1419213790
NM_001351132.2(PEX5):c.677dup (p.Val227fs) rs796051881
NM_001351132.2(PEX5):c.944_945dup (p.Thr316fs)
NM_001351132.2(PEX5):c.967-1G>A
NM_003659.4(AGPS):c.*1105dup rs574941020
NM_003659.4(AGPS):c.*118A>G rs187686783
NM_003659.4(AGPS):c.*1312T>C rs2079213030
NM_003659.4(AGPS):c.*1469T>G rs2079214761
NM_003659.4(AGPS):c.*1713TGA[1] rs143451487
NM_003659.4(AGPS):c.*1811_*1812insAAAA rs138605667
NM_003659.4(AGPS):c.*1814_*1815insAGAA rs61052002
NM_003659.4(AGPS):c.*1836_*1841del rs886055177
NM_003659.4(AGPS):c.*1838AT[10] rs373957026
NM_003659.4(AGPS):c.*1838AT[12] rs373957026
NM_003659.4(AGPS):c.*1860G>A rs62182697
NM_003659.4(AGPS):c.*1860_*1861dup rs1553519847
NM_003659.4(AGPS):c.*1862_*1863del rs886055181
NM_003659.4(AGPS):c.*1862_*1867del rs886055182
NM_003659.4(AGPS):c.*1863_*1864insATGT rs886055183
NM_003659.4(AGPS):c.*1868GT[7] rs1491154667
NM_003659.4(AGPS):c.*1868_*1869insCG rs886055185
NM_003659.4(AGPS):c.*1869T>C rs58814309
NM_003659.4(AGPS):c.*1878_*1883del rs886055186
NM_003659.4(AGPS):c.*1878_*1885del rs886055187
NM_003659.4(AGPS):c.*1880A>G rs58369399
NM_003659.4(AGPS):c.*1880AT[11] rs59535792
NM_003659.4(AGPS):c.*1880AT[7] rs59535792
NM_003659.4(AGPS):c.*1880AT[8] rs59535792
NM_003659.4(AGPS):c.*1882A>G rs1132025
NM_003659.4(AGPS):c.*2318A>G rs77518887
NM_003659.4(AGPS):c.*2582C>T rs886055191
NM_003659.4(AGPS):c.*3524T>C rs2079236633
NM_003659.4(AGPS):c.*361C>T rs1309071911
NM_003659.4(AGPS):c.*377C>G rs112754713
NM_003659.4(AGPS):c.*377C>T rs112754713
NM_003659.4(AGPS):c.*3854dup rs397783598
NM_003659.4(AGPS):c.*3911AGTTTT[1] rs369534713
NM_003659.4(AGPS):c.*4228A>C rs2079245322
NM_003659.4(AGPS):c.*4625C>T rs2079249293
NM_003659.4(AGPS):c.*4660del rs144602349
NM_003659.4(AGPS):c.*467_*475del rs886055171
NM_003659.4(AGPS):c.*4788G>T rs2079251648
NM_003659.4(AGPS):c.*5023C>A rs148879448
NM_003659.4(AGPS):c.*5159T>C rs536424736
NM_003659.4(AGPS):c.*5506T>C rs886055200
NM_003659.4(AGPS):c.*947T>G rs886055174
NM_003659.4(AGPS):c.1037_1043del (p.Glu346fs) rs2105675391
NM_003659.4(AGPS):c.1152C>A (p.Val384=) rs529236041
NM_003659.4(AGPS):c.1204G>A (p.Val402Ile)
NM_003659.4(AGPS):c.1233+13AT[7] rs200546003
NM_003659.4(AGPS):c.1256G>A (p.Arg419His) rs121434411
NM_003659.4(AGPS):c.127G>A (p.Gly43Ser)
NM_003659.4(AGPS):c.1363-2A>T rs746449593
NM_003659.4(AGPS):c.1376A>G (p.Asp459Gly) rs1688501814
NM_003659.4(AGPS):c.1406T>C (p.Leu469Pro) rs121434413
NM_003659.4(AGPS):c.1536A>T (p.Ala512=) rs1036071531
NM_003659.4(AGPS):c.1536dup (p.Tyr513fs)
NM_003659.4(AGPS):c.1546-84_1591dup
NM_003659.4(AGPS):c.1557_1564del (p.Glu520fs)
NM_003659.4(AGPS):c.1566T>C (p.Tyr522=) rs1224416609
NM_003659.4(AGPS):c.1597C>A (p.Pro533Thr) rs886055167
NM_003659.4(AGPS):c.1608-1G>A
NM_003659.4(AGPS):c.1658_1659del (p.Lys553fs)
NM_003659.4(AGPS):c.1678G>C (p.Ala560Pro) rs1411152201
NM_003659.4(AGPS):c.1703C>T (p.Thr568Met) rs387907214
NM_003659.4(AGPS):c.1762A>G (p.Ile588Val) rs886055168
NM_003659.4(AGPS):c.1874A>C (p.Gln625Pro) rs769818292
NM_003659.4(AGPS):c.197C>T (p.Ala66Val) rs774854340
NM_003659.4(AGPS):c.258G>A (p.Lys86=) rs1685066744
NM_003659.4(AGPS):c.288G>A (p.Trp96Ter)
NM_003659.4(AGPS):c.301dup (p.Ser101fs)
NM_003659.4(AGPS):c.451A>T (p.Asn151Tyr) rs886055164
NM_003659.4(AGPS):c.505A>T (p.Lys169Ter)
NM_003659.4(AGPS):c.544C>T (p.Arg182Ter) rs1686426425
NM_003659.4(AGPS):c.557_562+5del
NM_003659.4(AGPS):c.562+1G>A
NM_003659.4(AGPS):c.563-10del rs3834134
NM_003659.4(AGPS):c.580delinsCC (p.Ile194fs)
NM_003659.4(AGPS):c.582A>G (p.Ile194Met) rs1686432818
NM_003659.4(AGPS):c.595G>T (p.Glu199Ter)
NM_003659.4(AGPS):c.610C>T (p.Arg204Ter)
NM_003659.4(AGPS):c.637+2T>A
NM_003659.4(AGPS):c.710-2A>G
NM_003659.4(AGPS):c.72C>T (p.Asp24=) rs923081006
NM_003659.4(AGPS):c.774G>A (p.Leu258=) rs1686637520
NM_003659.4(AGPS):c.793C>T (p.Arg265Ter) rs886055165
NM_003659.4(AGPS):c.86CGGACC[3] (p.29PD[3]) rs886055162
NM_003659.4(AGPS):c.870+4T>A rs886055166
NM_003659.4(AGPS):c.918_919del (p.Glu306fs)
NM_003659.4(AGPS):c.926C>T (p.Thr309Ile) rs121434412
NM_003659.4(AGPS):c.952G>A (p.Ala318Thr) rs1171884922
NM_014236.4(GNPAT):c.*129C>T rs1685755752
NM_014236.4(GNPAT):c.*18T>C rs150776112
NM_014236.4(GNPAT):c.*195C>T rs780763661
NM_014236.4(GNPAT):c.*2A>C rs149641223
NM_014236.4(GNPAT):c.-121C>T rs573141457
NM_014236.4(GNPAT):c.-54A>G rs886046088
NM_014236.4(GNPAT):c.1030C>T (p.Arg344Trp) rs886046090
NM_014236.4(GNPAT):c.1058dup (p.Tyr353Ter)
NM_014236.4(GNPAT):c.1121del (p.Glu374fs)
NM_014236.4(GNPAT):c.1158G>A (p.Trp386Ter)
NM_014236.4(GNPAT):c.1279+1G>T
NM_014236.4(GNPAT):c.1280-3T>G rs1571955307
NM_014236.4(GNPAT):c.1297G>T (p.Glu433Ter)
NM_014236.4(GNPAT):c.1305C>T (p.Val435=)
NM_014236.4(GNPAT):c.1336G>T (p.Ala446Ser)
NM_014236.4(GNPAT):c.1387del (p.Glu463fs)
NM_014236.4(GNPAT):c.1424T>C (p.Leu475Pro) rs886046091
NM_014236.4(GNPAT):c.1429_1430del (p.Met477fs) rs1571955597
NM_014236.4(GNPAT):c.1482del (p.Leu494_Val495insTer)
NM_014236.4(GNPAT):c.1483del (p.Leu494_Val495insTer) rs749069446
NM_014236.4(GNPAT):c.1502T>A (p.Met501Lys)
NM_014236.4(GNPAT):c.1522+15T>C rs200561922
NM_014236.4(GNPAT):c.1575del (p.Phe525fs) rs1571957148
NM_014236.4(GNPAT):c.1583_1586del (p.Leu528fs) rs2102825068
NM_014236.4(GNPAT):c.1603-3T>G
NM_014236.4(GNPAT):c.1621del (p.Tyr541fs)
NM_014236.4(GNPAT):c.1622dup (p.Tyr541Ter)
NM_014236.4(GNPAT):c.1668C>T (p.Ile556=) rs1685638665
NM_014236.4(GNPAT):c.1678G>A (p.Glu560Lys) rs1685639021
NM_014236.4(GNPAT):c.1680G>A (p.Glu560=) rs886046093
NM_014236.4(GNPAT):c.1712del (p.Gly571fs)
NM_014236.4(GNPAT):c.1718_1719del (p.Leu572_Phe573insTer)
NM_014236.4(GNPAT):c.1743+1G>T
NM_014236.4(GNPAT):c.1758C>G (p.Tyr586Ter)
NM_014236.4(GNPAT):c.180T>A (p.Tyr60Ter)
NM_014236.4(GNPAT):c.1937+5G>A rs1571960363
NM_014236.4(GNPAT):c.1937+9T>A
NM_014236.4(GNPAT):c.2010del (p.Pro671fs)
NM_014236.4(GNPAT):c.2023C>T (p.Pro675Ser) rs749833026
NM_014236.4(GNPAT):c.256A>T (p.Lys86Ter)
NM_014236.4(GNPAT):c.26_27del (p.Ser9fs)
NM_014236.4(GNPAT):c.278T>G (p.Leu93Arg) rs886046089
NM_014236.4(GNPAT):c.289G>A (p.Asp97Asn) rs1558331190
NM_014236.4(GNPAT):c.290_291del (p.Asp97fs)
NM_014236.4(GNPAT):c.298C>T (p.Arg100Ter) rs1685194348
NM_014236.4(GNPAT):c.442C>T (p.Gln148Ter) rs1571946866
NM_014236.4(GNPAT):c.476T>C (p.Leu159Pro) rs865813028
NM_014236.4(GNPAT):c.487C>T (p.Arg163Ter)
NM_014236.4(GNPAT):c.544delinsTT (p.Val182fs)
NM_014236.4(GNPAT):c.569-11del rs199905093
NM_014236.4(GNPAT):c.569-3T>G rs745869264
NM_014236.4(GNPAT):c.574del (p.Leu192fs)
NM_014236.4(GNPAT):c.780del (p.Asn261fs) rs1571950208
NM_014236.4(GNPAT):c.805A>T (p.Lys269Ter)
NM_014236.4(GNPAT):c.807_808del (p.Glu271fs)
NM_014236.4(GNPAT):c.849_850dup (p.Tyr284fs) rs1558334625
NM_014236.4(GNPAT):c.874_877del (p.Leu292fs)
NM_014236.4(GNPAT):c.876_877del (p.Tyr293fs)
NM_014236.4(GNPAT):c.913G>T (p.Glu305Ter)
NM_014236.4(GNPAT):c.925-2del
NM_014236.4(GNPAT):c.954del (p.Glu319fs)

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