ClinVar Miner

List of variants reported as uncertain significance for Microcephalic osteodysplastic primordial dwarfism type II

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 346
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HGVS dbSNP gnomAD frequency
NM_006031.6(PCNT):c.9291T>C (p.Ala3097=) rs150554265 0.00209
NM_006031.6(PCNT):c.467A>G (p.His156Arg) rs61735825 0.00146
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=) rs61735808 0.00127
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu) rs61735813 0.00115
NM_006031.6(PCNT):c.7180-8C>T rs143511166 0.00108
NM_006031.6(PCNT):c.7803G>A (p.Ala2601=) rs144869229 0.00086
NM_006031.6(PCNT):c.4139C>T (p.Ala1380Val) rs201139850 0.00085
NM_006031.6(PCNT):c.5707C>T (p.Arg1903Cys) rs548190846 0.00077
NM_006031.6(PCNT):c.1107T>C (p.His369=) rs113731555 0.00076
NM_006031.6(PCNT):c.4844C>T (p.Thr1615Met) rs139581644 0.00076
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu) rs180775012 0.00074
NM_006031.6(PCNT):c.5708G>T (p.Arg1903Leu) rs776232288 0.00074
NM_006031.6(PCNT):c.7309G>C (p.Gly2437Arg) rs148384323 0.00073
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239 0.00068
NM_006031.6(PCNT):c.7332C>T (p.Thr2444=) rs150882711 0.00066
NM_006031.6(PCNT):c.623G>A (p.Arg208His) rs142318247 0.00065
NM_006031.6(PCNT):c.7655G>A (p.Arg2552His) rs199589423 0.00063
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=) rs139383288 0.00058
NM_006031.6(PCNT):c.8702C>T (p.Pro2901Leu) rs150615481 0.00054
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val) rs370664761 0.00052
NM_006031.6(PCNT):c.2610-8T>C rs377164652 0.00047
NM_006031.6(PCNT):c.979G>C (p.Glu327Gln) rs575720246 0.00045
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys) rs147358856 0.00043
NM_006031.6(PCNT):c.4563+11G>A rs370423096 0.00043
NM_006031.6(PCNT):c.6072C>T (p.Thr2024=) rs143671774 0.00043
NM_006031.6(PCNT):c.9968-3C>T rs182378192 0.00043
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786 0.00041
NM_006031.6(PCNT):c.6761G>A (p.Cys2254Tyr) rs141635334 0.00041
NM_006031.6(PCNT):c.6093G>A (p.Gln2031=) rs138543824 0.00040
NM_006031.6(PCNT):c.1761+13G>A rs368579694 0.00038
NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val) rs138254119 0.00038
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu) rs144633170 0.00038
NM_006031.6(PCNT):c.8399G>A (p.Arg2800Gln) rs146792192 0.00036
NM_006031.6(PCNT):c.9099+13C>T rs376185703 0.00035
NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln) rs145055342 0.00032
NM_006031.6(PCNT):c.506G>A (p.Arg169His) rs61735823 0.00032
NM_006031.6(PCNT):c.7118G>A (p.Gly2373Glu) rs147670568 0.00032
NM_006031.6(PCNT):c.8672C>T (p.Ala2891Val) rs144963695 0.00032
NM_006031.6(PCNT):c.2247A>C (p.Glu749Asp) rs202246527 0.00031
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp) rs202161810 0.00029
NM_006031.6(PCNT):c.4584+3G>A rs201042435 0.00029
NM_006031.6(PCNT):c.4584+9G>T rs202096874 0.00029
NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu) rs148389745 0.00029
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys) rs143560718 0.00028
NM_006031.6(PCNT):c.7224G>A (p.Ala2408=) rs140912550 0.00028
NM_006031.6(PCNT):c.6645G>A (p.Pro2215=) rs144342729 0.00027
NM_006031.6(PCNT):c.9099+14G>A rs370266308 0.00027
NM_006031.6(PCNT):c.7993C>T (p.Leu2665=) rs370099497 0.00026
NM_006031.6(PCNT):c.9661C>T (p.Arg3221Trp) rs141304187 0.00024
NM_006031.6(PCNT):c.5554A>G (p.Met1852Val) rs142080697 0.00023
NM_006031.6(PCNT):c.5726C>T (p.Pro1909Leu) rs781468861 0.00022
NM_006031.6(PCNT):c.8172C>T (p.Ile2724=) rs146717642 0.00022
NM_006031.6(PCNT):c.2358A>G (p.Ile786Met) rs777841149 0.00021
NM_006031.6(PCNT):c.7297T>C (p.Ser2433Pro) rs113536916 0.00019
NM_006031.6(PCNT):c.2714A>G (p.Gln905Arg) rs112231246 0.00018
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=) rs200610141 0.00018
NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg) rs80166001 0.00017
NM_006031.6(PCNT):c.9684C>T (p.Gly3228=) rs1128166 0.00017
NM_006031.6(PCNT):c.*179G>A rs1043813292 0.00016
NM_006031.6(PCNT):c.427C>T (p.Arg143Cys) rs201176638 0.00016
NM_006031.6(PCNT):c.6722G>A (p.Ser2241Asn) rs142402562 0.00016
NM_006031.6(PCNT):c.6800C>T (p.Ser2267Leu) rs548287016 0.00016
NM_006031.6(PCNT):c.7011T>C (p.Asp2337=) rs138506849 0.00016
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu) rs138868039 0.00016
NM_006031.6(PCNT):c.9128A>G (p.Gln3043Arg) rs747647379 0.00016
NM_006031.6(PCNT):c.9840-4G>A rs199857861 0.00016
NM_006031.6(PCNT):c.1370A>G (p.Glu457Gly) rs147868583 0.00015
NM_006031.6(PCNT):c.934C>T (p.Arg312Trp) rs572076735 0.00015
NM_006031.6(PCNT):c.9584G>A (p.Arg3195Lys) rs78524660 0.00015
NM_006031.6(PCNT):c.959G>A (p.Arg320Lys) rs149844283 0.00014
NM_006031.6(PCNT):c.9852C>T (p.Ser3284=) rs142800774 0.00014
NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp) rs200174202 0.00013
NM_006031.6(PCNT):c.5027T>C (p.Ile1676Thr) rs140290722 0.00013
NM_006031.6(PCNT):c.4056C>T (p.Ala1352=) rs141211481 0.00012
NM_006031.6(PCNT):c.4791+14A>G rs201124068 0.00012
NM_006031.6(PCNT):c.5741C>T (p.Ala1914Val) rs748285536 0.00012
NM_006031.6(PCNT):c.9866T>C (p.Leu3289Ser) rs199737174 0.00012
NM_006031.6(PCNT):c.*234C>T rs868047279 0.00011
NM_006031.6(PCNT):c.1185T>C (p.Phe395=) rs764314231 0.00011
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys) rs202221024 0.00011
NM_006031.6(PCNT):c.4223G>A (p.Arg1408Gln) rs199661615 0.00011
NM_006031.6(PCNT):c.4378G>A (p.Val1460Ile) rs766688176 0.00011
NM_006031.6(PCNT):c.4775T>G (p.Val1592Gly) rs141276542 0.00011
NM_006031.6(PCNT):c.5582C>T (p.Ala1861Val) rs373238616 0.00011
NM_006031.6(PCNT):c.8930C>T (p.Ala2977Val) rs146657011 0.00011
NM_006031.6(PCNT):c.*307A>G rs879391669 0.00010
NM_006031.6(PCNT):c.2784C>T (p.Gly928=) rs201809134 0.00010
NM_006031.6(PCNT):c.6395A>G (p.Asn2132Ser) rs886057187 0.00010
NM_006031.6(PCNT):c.947A>T (p.Glu316Val) rs201194745 0.00010
NM_006031.6(PCNT):c.977C>T (p.Ala326Val) rs181165794 0.00010
NM_006031.6(PCNT):c.1155A>G (p.Ala385=) rs201944549 0.00009
NM_006031.6(PCNT):c.1590T>C (p.Ala530=) rs200294006 0.00009
NM_006031.6(PCNT):c.244G>A (p.Ala82Thr) rs143870030 0.00009
NM_006031.6(PCNT):c.4568C>T (p.Ala1523Val) rs138175397 0.00009
NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val) rs546562229 0.00009
NM_006031.6(PCNT):c.5477G>C (p.Gly1826Ala) rs199847432 0.00009
NM_006031.6(PCNT):c.7689G>T (p.Gln2563His) rs199936673 0.00009
NM_006031.6(PCNT):c.9099+8G>T rs369178196 0.00009
NM_006031.6(PCNT):c.9235T>C (p.Leu3079=) rs144651746 0.00009
NM_006031.6(PCNT):c.*421A>G rs886057198 0.00008
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser) rs59183158 0.00008
NM_006031.6(PCNT):c.5994+4G>A rs781737632 0.00008
NM_006031.6(PCNT):c.721-5C>T rs144683591 0.00008
NM_006031.6(PCNT):c.1236T>C (p.His412=) rs769637090 0.00007
NM_006031.6(PCNT):c.3221G>A (p.Arg1074Gln) rs756810982 0.00007
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=) rs755298136 0.00007
NM_006031.6(PCNT):c.505C>T (p.Arg169Cys) rs748260212 0.00007
NM_006031.6(PCNT):c.8959C>T (p.Arg2987Trp) rs587784322 0.00007
NM_006031.6(PCNT):c.16G>C (p.Glu6Gln) rs761540486 0.00006
NM_006031.6(PCNT):c.2444C>T (p.Thr815Met) rs201895762 0.00006
NM_006031.6(PCNT):c.2545G>A (p.Gly849Arg) rs776223654 0.00006
NM_006031.6(PCNT):c.267+3A>G rs771971500 0.00006
NM_006031.6(PCNT):c.2710C>T (p.Leu904Phe) rs61735804 0.00006
NM_006031.6(PCNT):c.4387C>A (p.Leu1463Met) rs193261408 0.00006
NM_006031.6(PCNT):c.4605G>T (p.Lys1535Asn) rs775413533 0.00006
NM_006031.6(PCNT):c.5341G>A (p.Gly1781Arg) rs200137805 0.00006
NM_006031.6(PCNT):c.5960A>T (p.Asp1987Val) rs374300652 0.00006
NM_006031.6(PCNT):c.6295C>T (p.Pro2099Ser) rs371054707 0.00006
NM_006031.6(PCNT):c.8116G>A (p.Val2706Met) rs780988556 0.00006
NM_006031.6(PCNT):c.8564G>A (p.Arg2855Gln) rs568559091 0.00006
NM_006031.6(PCNT):c.9698C>G (p.Pro3233Arg) rs373681566 0.00006
NM_006031.6(PCNT):c.1181T>C (p.Ile394Thr) rs200545088 0.00005
NM_006031.6(PCNT):c.3395G>A (p.Arg1132Gln) rs200148867 0.00005
NM_006031.6(PCNT):c.3716G>A (p.Arg1239His) rs201315836 0.00005
NM_006031.6(PCNT):c.389A>G (p.His130Arg) rs57046460 0.00005
NM_006031.6(PCNT):c.7029C>T (p.Asp2343=) rs143064269 0.00005
NM_006031.6(PCNT):c.7180-7G>A rs201549624 0.00005
NM_006031.6(PCNT):c.7298C>T (p.Ser2433Leu) rs769852846 0.00005
NM_006031.6(PCNT):c.7913+4C>T rs376736200 0.00005
NM_006031.6(PCNT):c.*110G>A rs773970145 0.00004
NM_006031.6(PCNT):c.-33A>G rs755311284 0.00004
NM_006031.6(PCNT):c.1457-5T>A rs769237607 0.00004
NM_006031.6(PCNT):c.2376A>C (p.Arg792=) rs759858754 0.00004
NM_006031.6(PCNT):c.2724C>G (p.His908Gln) rs746750267 0.00004
NM_006031.6(PCNT):c.3108C>T (p.Thr1036=) rs182694054 0.00004
NM_006031.6(PCNT):c.4791+8G>A rs769352853 0.00004
NM_006031.6(PCNT):c.5647C>T (p.Arg1883Trp) rs746468689 0.00004
NM_006031.6(PCNT):c.5698C>T (p.Arg1900Cys) rs529740865 0.00004
NM_006031.6(PCNT):c.5849G>A (p.Arg1950Gln) rs753398573 0.00004
NM_006031.6(PCNT):c.5937C>T (p.Thr1979=) rs181294356 0.00004
NM_006031.6(PCNT):c.6032C>T (p.Ala2011Val) rs145119952 0.00004
NM_006031.6(PCNT):c.6144C>T (p.Gly2048=) rs777489939 0.00004
NM_006031.6(PCNT):c.6145G>A (p.Gly2049Ser) rs10222114 0.00004
NM_006031.6(PCNT):c.6644C>T (p.Pro2215Leu) rs750958898 0.00004
NM_006031.6(PCNT):c.6768C>T (p.Ala2256=) rs755956494 0.00004
NM_006031.6(PCNT):c.7568C>T (p.Ala2523Val) rs368569999 0.00004
NM_006031.6(PCNT):c.7871C>T (p.Ser2624Phe) rs199981467 0.00004
NM_006031.6(PCNT):c.7939G>A (p.Glu2647Lys) rs886267351 0.00004
NM_006031.6(PCNT):c.8268G>T (p.Glu2756Asp) rs764010211 0.00004
NM_006031.6(PCNT):c.8873G>A (p.Arg2958His) rs574728262 0.00004
NM_006031.6(PCNT):c.9532G>C (p.Gly3178Arg) rs372024492 0.00004
NM_006031.6(PCNT):c.138C>T (p.Val46=) rs762863150 0.00003
NM_006031.6(PCNT):c.139G>C (p.Asp47His) rs112837071 0.00003
NM_006031.6(PCNT):c.2647A>G (p.Ser883Gly) rs771897801 0.00003
NM_006031.6(PCNT):c.3061C>T (p.Arg1021Trp) rs138361417 0.00003
NM_006031.6(PCNT):c.336T>C (p.His112=) rs59157477 0.00003
NM_006031.6(PCNT):c.339T>A (p.Pro113=) rs59662841 0.00003
NM_006031.6(PCNT):c.3464G>A (p.Arg1155Lys) rs886057181 0.00003
NM_006031.6(PCNT):c.3714G>C (p.Met1238Ile) rs886057183 0.00003
NM_006031.6(PCNT):c.4555G>A (p.Asp1519Asn) rs762126145 0.00003
NM_006031.6(PCNT):c.481G>A (p.Val161Ile) rs555841008 0.00003
NM_006031.6(PCNT):c.5431C>T (p.Arg1811Cys) rs587784309 0.00003
NM_006031.6(PCNT):c.5648G>A (p.Arg1883Gln) rs770575971 0.00003
NM_006031.6(PCNT):c.5679C>T (p.Ala1893=) rs761816773 0.00003
NM_006031.6(PCNT):c.6572C>A (p.Ser2191Tyr) rs587784315 0.00003
NM_006031.6(PCNT):c.6648C>T (p.Val2216=) rs527590016 0.00003
NM_006031.6(PCNT):c.6884C>T (p.Pro2295Leu) rs572123043 0.00003
NM_006031.6(PCNT):c.7061G>T (p.Gly2354Val) rs144775948 0.00003
NM_006031.6(PCNT):c.7136C>T (p.Pro2379Leu) rs151230453 0.00003
NM_006031.6(PCNT):c.7198C>T (p.Arg2400Cys) rs751297741 0.00003
NM_006031.6(PCNT):c.7304A>G (p.His2435Arg) rs373432697 0.00003
NM_006031.6(PCNT):c.7424G>A (p.Arg2475Gln) rs149779006 0.00003
NM_006031.6(PCNT):c.788A>G (p.Glu263Gly) rs886057178 0.00003
NM_006031.6(PCNT):c.8284C>T (p.Arg2762Trp) rs761885630 0.00003
NM_006031.6(PCNT):c.8290G>C (p.Glu2764Gln) rs372871511 0.00003
NM_006031.6(PCNT):c.9304G>A (p.Glu3102Lys) rs775636867 0.00003
NM_006031.6(PCNT):c.9719C>T (p.Pro3240Leu) rs138860570 0.00003
NM_006031.6(PCNT):c.3312+14G>A rs371666981 0.00002
NM_006031.6(PCNT):c.3710A>G (p.His1237Arg) rs761299168 0.00002
NM_006031.6(PCNT):c.4351C>T (p.Arg1451Cys) rs200606073 0.00002
NM_006031.6(PCNT):c.4431G>A (p.Gln1477=) rs61735807 0.00002
NM_006031.6(PCNT):c.4474C>T (p.Arg1492Cys) rs764560918 0.00002
NM_006031.6(PCNT):c.4727A>G (p.Lys1576Arg) rs768872502 0.00002
NM_006031.6(PCNT):c.545G>A (p.Arg182His) rs193268784 0.00002
NM_006031.6(PCNT):c.571A>C (p.Thr191Pro) rs150001244 0.00002
NM_006031.6(PCNT):c.6150+10G>C rs886057186 0.00002
NM_006031.6(PCNT):c.6416C>T (p.Thr2139Ile) rs886057188 0.00002
NM_006031.6(PCNT):c.6593G>A (p.Gly2198Asp) rs137977081 0.00002
NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro) rs772025323 0.00002
NM_006031.6(PCNT):c.7465G>A (p.Glu2489Lys) rs148485670 0.00002
NM_006031.6(PCNT):c.8257C>T (p.Arg2753Cys) rs772107252 0.00002
NM_006031.6(PCNT):c.8810C>T (p.Thr2937Ile) rs372282731 0.00002
NM_006031.6(PCNT):c.8894C>T (p.Ala2965Val) rs200044004 0.00002
NM_006031.6(PCNT):c.8942G>A (p.Arg2981Gln) rs747159043 0.00002
NM_006031.6(PCNT):c.*126A>G rs2053728715 0.00001
NM_006031.6(PCNT):c.1064A>G (p.Asp355Gly) rs753659648 0.00001
NM_006031.6(PCNT):c.1479G>A (p.Ala493=) rs199864153 0.00001
NM_006031.6(PCNT):c.1737T>C (p.Asp579=) rs1170990391 0.00001
NM_006031.6(PCNT):c.2610-7G>A rs753811883 0.00001
NM_006031.6(PCNT):c.2677G>A (p.Ala893Thr) rs776133593 0.00001
NM_006031.6(PCNT):c.2842G>A (p.Glu948Lys) rs752300035 0.00001
NM_006031.6(PCNT):c.3092G>A (p.Arg1031Gln) rs544000220 0.00001
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala) rs762148129 0.00001
NM_006031.6(PCNT):c.3626C>T (p.Thr1209Ile) rs772421309 0.00001
NM_006031.6(PCNT):c.3992A>G (p.His1331Arg) rs34012939 0.00001
NM_006031.6(PCNT):c.4175G>A (p.Arg1392Gln) rs587784304 0.00001
NM_006031.6(PCNT):c.4176G>C (p.Arg1392=) rs767908478 0.00001
NM_006031.6(PCNT):c.4462C>T (p.Arg1488Trp) rs371945746 0.00001
NM_006031.6(PCNT):c.4563+15C>T rs1234384421 0.00001
NM_006031.6(PCNT):c.4642A>G (p.Ile1548Val) rs766280665 0.00001
NM_006031.6(PCNT):c.4681G>A (p.Glu1561Lys) rs781526777 0.00001
NM_006031.6(PCNT):c.4697G>A (p.Arg1566His) rs776095839 0.00001
NM_006031.6(PCNT):c.4949G>A (p.Arg1650Gln) rs982539653 0.00001
NM_006031.6(PCNT):c.4953C>T (p.Arg1651=) rs760142269 0.00001
NM_006031.6(PCNT):c.5105C>T (p.Thr1702Met) rs768063203 0.00001
NM_006031.6(PCNT):c.5402C>A (p.Ala1801Asp) rs759289691 0.00001
NM_006031.6(PCNT):c.5543A>G (p.Glu1848Gly) rs201943167 0.00001
NM_006031.6(PCNT):c.5919C>T (p.Gly1973=) rs752349556 0.00001
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu) rs758977418 0.00001
NM_006031.6(PCNT):c.6185C>T (p.Pro2062Leu) rs376147151 0.00001
NM_006031.6(PCNT):c.6192C>T (p.Val2064=) rs1229663143 0.00001
NM_006031.6(PCNT):c.6586G>A (p.Val2196Ile) rs375143479 0.00001
NM_006031.6(PCNT):c.6590T>C (p.Leu2197Pro) rs369420036 0.00001
NM_006031.6(PCNT):c.6754A>G (p.Ser2252Gly) rs886057190 0.00001
NM_006031.6(PCNT):c.6983C>T (p.Pro2328Leu) rs747212974 0.00001
NM_006031.6(PCNT):c.71A>G (p.Gln24Arg) rs758228005 0.00001
NM_006031.6(PCNT):c.7230A>G (p.Ser2410=) rs1292668105 0.00001
NM_006031.6(PCNT):c.7321-10C>T rs587784318 0.00001
NM_006031.6(PCNT):c.7588A>G (p.Met2530Val) rs749686283 0.00001
NM_006031.6(PCNT):c.7593G>A (p.Thr2531=) rs372531708 0.00001
NM_006031.6(PCNT):c.7699C>T (p.Leu2567=) rs766025734 0.00001
NM_006031.6(PCNT):c.7836C>T (p.Asp2612=) rs757858684 0.00001
NM_006031.6(PCNT):c.8325A>G (p.Thr2775=) rs776706307 0.00001
NM_006031.6(PCNT):c.862C>T (p.Arg288Cys) rs781317079 0.00001
NM_006031.6(PCNT):c.8641C>T (p.Arg2881Trp) rs766529116 0.00001
NM_006031.6(PCNT):c.8771G>A (p.Arg2924His) rs139830890 0.00001
NM_006031.6(PCNT):c.9250C>G (p.Leu3084Val) rs760545245 0.00001
NM_006031.6(PCNT):c.9628C>T (p.Arg3210Cys) rs374027088 0.00001
NM_006031.6(PCNT):c.9694C>T (p.Arg3232Cys) rs537151957 0.00001
NM_006031.5(PCNT):c.*451G>A rs897212255
NM_006031.6(PCNT):c.*221C>G rs1013799749
NM_006031.6(PCNT):c.*225G>A rs528999705
NM_006031.6(PCNT):c.*318A>G rs1242193691
NM_006031.6(PCNT):c.-35T>A rs886057177
NM_006031.6(PCNT):c.10000dup (p.Ile3334fs)
NM_006031.6(PCNT):c.1083A>G (p.Leu361=) rs758561093
NM_006031.6(PCNT):c.1396G>A (p.Glu466Lys) rs2084269624
NM_006031.6(PCNT):c.1483A>G (p.Thr495Ala) rs2084338403
NM_006031.6(PCNT):c.1586A>G (p.Asp529Gly) rs2084341884
NM_006031.6(PCNT):c.1716A>G (p.Lys572=) rs138617654
NM_006031.6(PCNT):c.1716A>T (p.Lys572Asn) rs138617654
NM_006031.6(PCNT):c.1813C>G (p.Leu605Val) rs2084439675
NM_006031.6(PCNT):c.1971C>G (p.Asp657Glu) rs150892737
NM_006031.6(PCNT):c.2075T>C (p.Ile692Thr) rs886057179
NM_006031.6(PCNT):c.2154+7C>A rs376236418
NM_006031.6(PCNT):c.2470C>T (p.Leu824=) rs61735803
NM_006031.6(PCNT):c.2545G>T (p.Gly849Trp) rs776223654
NM_006031.6(PCNT):c.262G>A (p.Ala88Thr) rs768342760
NM_006031.6(PCNT):c.2742A>G (p.Ser914=) rs587784301
NM_006031.6(PCNT):c.2750C>T (p.Ala917Val) rs763541418
NM_006031.6(PCNT):c.3206A>G (p.Lys1069Arg) rs886057180
NM_006031.6(PCNT):c.321G>T (p.Lys107Asn) rs138834119
NM_006031.6(PCNT):c.3228G>T (p.Gln1076His) rs986050062
NM_006031.6(PCNT):c.3233C>A (p.Ala1078Glu) rs587784303
NM_006031.6(PCNT):c.3282G>T (p.Gln1094His) rs78484478
NM_006031.6(PCNT):c.3333C>T (p.Ser1111=) rs2085811037
NM_006031.6(PCNT):c.3418CTC[1] (p.Leu1141del) rs759470656
NM_006031.6(PCNT):c.366_369del (p.Ser123fs) rs1569162602
NM_006031.6(PCNT):c.3682A>G (p.Met1228Val) rs886057182
NM_006031.6(PCNT):c.3762G>A (p.Gln1254=) rs886057184
NM_006031.6(PCNT):c.379C>G (p.Pro127Ala) rs139106698
NM_006031.6(PCNT):c.3812T>G (p.Met1271Arg) rs1484681697
NM_006031.6(PCNT):c.4177G>T (p.Gly1393Trp) rs753662756
NM_006031.6(PCNT):c.428G>A (p.Arg143His) rs58106867
NM_006031.6(PCNT):c.428_466dup (p.Arg143_Gln155dup) rs759009997
NM_006031.6(PCNT):c.4432C>T (p.Arg1478Trp) rs549834885
NM_006031.6(PCNT):c.445A>G (p.Ser149Gly) rs111737555
NM_006031.6(PCNT):c.445A>T (p.Ser149Cys) rs111737555
NM_006031.6(PCNT):c.4551T>C (p.Pro1517=) rs762692764
NM_006031.6(PCNT):c.4584+11G>A rs752879780
NM_006031.6(PCNT):c.4584+11G>C rs752879780
NM_006031.6(PCNT):c.4769A>G (p.Asn1590Ser) rs587784307
NM_006031.6(PCNT):c.5039A>C (p.Asn1680Thr) rs1296247151
NM_006031.6(PCNT):c.509G>C (p.Gly170Ala) rs761232554
NM_006031.6(PCNT):c.513G>C (p.Met171Ile) rs142422937
NM_006031.6(PCNT):c.5257C>T (p.Leu1753=) rs886057185
NM_006031.6(PCNT):c.5320G>C (p.Glu1774Gln) rs201709021
NM_006031.6(PCNT):c.533A>C (p.Gln178Pro) rs200285580
NM_006031.6(PCNT):c.5347C>T (p.Pro1783Ser) rs61735809
NM_006031.6(PCNT):c.537G>A (p.Pro179=) rs754732068
NM_006031.6(PCNT):c.5470C>T (p.Leu1824Phe) rs1602005527
NM_006031.6(PCNT):c.55-5C>T rs587784310
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=) rs151138182
NM_006031.6(PCNT):c.5632G>C (p.Asp1878His)
NM_006031.6(PCNT):c.5677G>T (p.Ala1893Ser) rs587784311
NM_006031.6(PCNT):c.5774A>C (p.Gln1925Pro) rs587784313
NM_006031.6(PCNT):c.5792G>A (p.Arg1931His) rs776640595
NM_006031.6(PCNT):c.5792G>T (p.Arg1931Leu) rs776640595
NM_006031.6(PCNT):c.5813A>C (p.Gln1938Pro) rs2086799208
NM_006031.6(PCNT):c.583C>T (p.Arg195Cys) rs199564971
NM_006031.6(PCNT):c.5874C>T (p.His1958=) rs2086801367
NM_006031.6(PCNT):c.5905C>T (p.Arg1969Cys)
NM_006031.6(PCNT):c.6024G>C (p.Leu2008Phe)
NM_006031.6(PCNT):c.6147C>T (p.Gly2049=) rs2086841170
NM_006031.6(PCNT):c.6366_6367del (p.Ser2123fs) rs1064793985
NM_006031.6(PCNT):c.6410dup (p.Val2138fs) rs1173590566
NM_006031.6(PCNT):c.6468A>G (p.Pro2156=) rs886057189
NM_006031.6(PCNT):c.6585C>T (p.Ser2195=) rs372022297
NM_006031.6(PCNT):c.6633C>T (p.Pro2211=) rs587784316
NM_006031.6(PCNT):c.6790G>A (p.Ala2264Thr) rs771286324
NM_006031.6(PCNT):c.6914C>T (p.Thr2305Met) rs770226991
NM_006031.6(PCNT):c.6922-4A>T rs587784317
NM_006031.6(PCNT):c.721-7G>T rs2839217
NM_006031.6(PCNT):c.7246C>T (p.Pro2416Ser) rs576796827
NM_006031.6(PCNT):c.7585C>T (p.Arg2529Cys)
NM_006031.6(PCNT):c.7601A>G (p.Gln2534Arg)
NM_006031.6(PCNT):c.7648G>A (p.Glu2550Lys) rs71326327
NM_006031.6(PCNT):c.7681C>G (p.Arg2561Gly) rs751345838
NM_006031.6(PCNT):c.7690+5G>A rs754618153
NM_006031.6(PCNT):c.7903C>T (p.Leu2635Phe) rs372068143
NM_006031.6(PCNT):c.8028C>T (p.His2676=) rs886057191
NM_006031.6(PCNT):c.8089C>A (p.Gln2697Lys) rs1211566024
NM_006031.6(PCNT):c.8114G>T (p.Cys2705Phe)
NM_006031.6(PCNT):c.8182C>T (p.Arg2728Cys)
NM_006031.6(PCNT):c.8398C>T (p.Arg2800Trp) rs142608069
NM_006031.6(PCNT):c.8591A>G (p.Glu2864Gly)
NM_006031.6(PCNT):c.8812G>A (p.Val2938Met)
NM_006031.6(PCNT):c.8818_8819del (p.Asp2940fs) rs1214290914
NM_006031.6(PCNT):c.8829G>A (p.Ser2943=) rs773483379
NM_006031.6(PCNT):c.8947C>G (p.Leu2983Val) rs372356069
NM_006031.6(PCNT):c.8956G>A (p.Ala2986Thr) rs201877661
NM_006031.6(PCNT):c.8996+10C>G rs748036380
NM_006031.6(PCNT):c.8996+5G>A rs886057193
NM_006031.6(PCNT):c.9195_9196insGA (p.Lys3066fs) rs1569308924
NM_006031.6(PCNT):c.9211A>G (p.Arg3071Gly) rs886057194
NM_006031.6(PCNT):c.9278C>G (p.Ser3093Trp) rs374857206
NM_006031.6(PCNT):c.9278C>T (p.Ser3093Leu) rs374857206
NM_006031.6(PCNT):c.9280G>C (p.Glu3094Gln) rs1404639711
NM_006031.6(PCNT):c.931G>A (p.Ala311Thr) rs140196457
NM_006031.6(PCNT):c.9564C>T (p.Ile3188=) rs201798996
NM_006031.6(PCNT):c.9611T>C (p.Ile3204Thr)
NM_006031.6(PCNT):c.9632T>G (p.Phe3211Cys) rs559822257
NM_006031.6(PCNT):c.9673C>G (p.Leu3225Val)
NM_006031.6(PCNT):c.9740G>A (p.Arg3247Lys) rs587784323
NM_006031.6(PCNT):c.9752C>T (p.Pro3251Leu)
NM_006031.6(PCNT):c.9820T>G (p.Ser3274Ala) rs144044246

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