ClinVar Miner

List of variants reported as uncertain significance for rhizomelic chondrodysplasia punctata

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 286
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003659.4(AGPS):c.*1866_*1867del rs761041008 0.11055
NM_003659.4(AGPS):c.*3971A>G rs150179488 0.00605
NM_003659.4(AGPS):c.*1884A>G rs886055190 0.00467
NM_003659.4(AGPS):c.*3381G>A rs190466352 0.00412
NM_003659.4(AGPS):c.*4232A>G rs145593745 0.00314
NM_003659.4(AGPS):c.*5609G>A rs191948308 0.00267
NM_003659.4(AGPS):c.*4780G>A rs542429122 0.00264
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.*206T>C rs74536999 0.00171
NM_000288.3(PEX7):c.-77T>C rs1321472 0.00160
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.64G>A (p.Ala22Thr) rs759572190 0.00069
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_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.*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_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_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_014236.4(GNPAT):c.-47C>A rs201907247 0.00011
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_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.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.203A>T (p.Asp68Val) rs763388501 0.00004
NM_000288.4(PEX7):c.467G>A (p.Ser156Asn) rs1554331549 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.1569A>G (p.Val523=) rs150977180 0.00004
NM_014236.4(GNPAT):c.-6C>T rs370992541 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.576C>T (p.Ile192=) rs776411851 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_003659.4(AGPS):c.*2088T>G rs529240564 0.00003
NM_003659.4(AGPS):c.*3060A>G rs886055192 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.193G>A (p.Asp65Asn) rs1229970963 0.00001
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg) rs367806635 0.00001
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys) rs769137963 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.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.961A>G (p.Ile321Val) rs879706210 0.00001
NM_000288.4(PEX7):c.96G>A (p.Leu32=) rs1397119638 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.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.930G>A (p.Leu310=) rs2296166 0.00001
NM_000288.3(PEX7):c.-88T>C rs886061115
NM_000288.4(PEX7):c.*124A>G rs112796869
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.-69C>A rs528948146
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.130+11G>T rs886061119
NM_000288.4(PEX7):c.130+13C>A rs886061120
NM_000288.4(PEX7):c.225G>C (p.Trp75Cys) rs1554328961
NM_000288.4(PEX7):c.316G>C (p.Val106Leu) rs886061121
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.37_45dup (p.Arg13_Pro15dup) rs1554328282
NM_000288.4(PEX7):c.38G>A (p.Arg13Gln) rs1220044805
NM_000288.4(PEX7):c.449C>T (p.Thr150Ile) rs957954726
NM_000288.4(PEX7):c.490T>C (p.Ser164Pro) rs62653607
NM_000288.4(PEX7):c.633+2TA[3]
NM_000288.4(PEX7):c.693A>G (p.Val231=) rs1582759944
NM_000288.4(PEX7):c.733A>T (p.Ile245Phe) rs750815894
NM_000288.4(PEX7):c.760C>T (p.His254Tyr) rs1775195476
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile) rs1452611618
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe) rs1775685342
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_001351132.2(PEX5):c.533G>A (p.Gly178Glu) rs749729761
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.*1811_*1812insAAAA rs138605667
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.*3911AGTTTT[1] rs369534713
NM_003659.4(AGPS):c.*4228A>C rs2079245322
NM_003659.4(AGPS):c.*4625C>T rs2079249293
NM_003659.4(AGPS):c.*467_*475del rs886055171
NM_003659.4(AGPS):c.*4788G>T rs2079251648
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.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.1566T>C (p.Tyr522=) rs1224416609
NM_003659.4(AGPS):c.1597C>A (p.Pro533Thr) rs886055167
NM_003659.4(AGPS):c.1678G>C (p.Ala560Pro) rs1411152201
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.451A>T (p.Asn151Tyr) rs886055164
NM_003659.4(AGPS):c.582A>G (p.Ile194Met) rs1686432818
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.952G>A (p.Ala318Thr) rs1171884922
NM_014236.4(GNPAT):c.*129C>T rs1685755752
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.1336G>T (p.Ala446Ser)
NM_014236.4(GNPAT):c.1424T>C (p.Leu475Pro) rs886046091
NM_014236.4(GNPAT):c.1502T>A (p.Met501Lys)
NM_014236.4(GNPAT):c.1522+15T>C rs200561922
NM_014236.4(GNPAT):c.1603-3T>G
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.2010del (p.Pro671fs)
NM_014236.4(GNPAT):c.2023C>T (p.Pro675Ser) rs749833026
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.476T>C (p.Leu159Pro) rs865813028
NM_014236.4(GNPAT):c.569-3T>G rs745869264

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