ClinVar Miner

List of variants reported as benign for Gorlin syndrome by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 380
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.2560+9G>C rs2066829 0.44128
NM_003738.5(PTCH2):c.2055T>C (p.Ala685=) rs7525308 0.42892
NM_003738.5(PTCH2):c.265+13C>T rs3795720 0.34867
NM_003738.5(PTCH2):c.1821A>G (p.Glu607=) rs2295997 0.18953
NM_003738.5(PTCH2):c.3114+14C>T rs11211040 0.17210
NM_000264.5(PTCH1):c.1686C>T (p.Ala562=) rs2066836 0.15395
NM_003738.5(PTCH2):c.2487C>T (p.Asp829=) rs2295996 0.14124
NM_000264.5(PTCH1):c.1665T>C (p.Asn555=) rs1805155 0.12597
NM_003738.5(PTCH2):c.2371+17C>T rs7532882 0.07832
NM_000264.5(PTCH1):c.1504-8T>C rs2277184 0.07277
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_000264.5(PTCH1):c.3141T>G (p.Leu1047=) rs2066835 0.03773
NM_003738.5(PTCH2):c.2963C>T (p.Thr988Met) rs11573590 0.02555
NM_000264.5(PTCH1):c.735A>G (p.Thr245=) rs1805154 0.02243
NM_000264.5(PTCH1):c.318C>T (p.Leu106=) rs1805153 0.01567
NM_003738.5(PTCH2):c.2127C>T (p.Asp709=) rs11573587 0.01447
NM_003738.5(PTCH2):c.687C>T (p.Ala229=) rs11573576 0.01288
NM_003738.5(PTCH2):c.2355C>T (p.Tyr785=) rs11573588 0.01285
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=) rs2227970 0.01091
NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=) rs138240178 0.01089
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_003738.5(PTCH2):c.90G>A (p.Leu30=) rs45573433 0.00945
NM_000264.5(PTCH1):c.1854C>T (p.Cys618=) rs62637628 0.00887
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=) rs2066830 0.00827
NM_003738.5(PTCH2):c.1073G>A (p.Arg358His) rs139624405 0.00701
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=) rs2066831 0.00677
NM_000264.5(PTCH1):c.1074T>C (p.His358=) rs2066832 0.00674
NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=) rs62637630 0.00663
NM_003738.5(PTCH2):c.1371+8A>G rs187485698 0.00661
NM_003738.5(PTCH2):c.1080G>T (p.Val360=) rs11573579 0.00649
NM_003738.5(PTCH2):c.840T>C (p.Ser280=) rs147627670 0.00534
NM_003738.5(PTCH2):c.3216T>C (p.Gly1072=) rs11573596 0.00468
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=) rs58629309 0.00466
NM_003738.5(PTCH2):c.2565C>T (p.Leu855=) rs34245589 0.00406
NM_000264.5(PTCH1):c.2799G>A (p.Ala933=) rs111446700 0.00379
NM_000264.5(PTCH1):c.109G>C (p.Gly37Arg) rs199976372 0.00281
NM_003738.5(PTCH2):c.2695+8T>C rs145066065 0.00211
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met) rs11573598 0.00155
NM_003738.5(PTCH2):c.1425G>A (p.Ala475=) rs35851686 0.00152
NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala) rs182045135 0.00128
NM_003738.5(PTCH2):c.1593G>A (p.Ala531=) rs11573585 0.00114
NM_003738.5(PTCH2):c.2013C>T (p.Phe671=) rs112563011 0.00108
NM_003738.5(PTCH2):c.622C>T (p.Arg208Cys) rs149379394 0.00103
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400 0.00098
NM_000264.5(PTCH1):c.2680G>A (p.Asp894Asn) rs56173896 0.00088
NM_000264.5(PTCH1):c.2304C>T (p.Thr768=) rs1805156 0.00086
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp) rs140417636 0.00086
NM_003738.5(PTCH2):c.1569G>A (p.Ala523=) rs143390610 0.00084
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=) rs28446339 0.00076
NM_000264.5(PTCH1):c.3805-9C>T rs2236404 0.00072
NM_000264.5(PTCH1):c.3633C>G (p.Pro1211=) rs56007343 0.00067
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_003738.5(PTCH2):c.1083+3C>T rs557532187 0.00066
NM_003738.5(PTCH2):c.1596C>T (p.Ala532=) rs140921885 0.00066
NM_000264.5(PTCH1):c.2787C>T (p.Asn929=) rs145196322 0.00065
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=) rs2229062 0.00063
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) rs779791579 0.00063
NM_000264.5(PTCH1):c.2050G>A (p.Glu684Lys) rs62637629 0.00061
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_000264.5(PTCH1):c.1503+12G>A rs368083214 0.00056
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=) rs45529536 0.00054
NM_000264.5(PTCH1):c.1847+14C>T rs202007968 0.00053
NM_003738.5(PTCH2):c.321G>A (p.Glu107=) rs143348731 0.00052
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys) rs147067171 0.00051
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=) rs142148876 0.00051
NM_000264.5(PTCH1):c.2560+8G>A rs201541845 0.00049
NM_000264.5(PTCH1):c.3169-17T>A rs375034864 0.00048
NM_000264.5(PTCH1):c.3687G>A (p.Thr1229=) rs139123130 0.00048
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326 0.00043
NM_000264.5(PTCH1):c.3907C>T (p.Arg1303Cys) rs56102979 0.00041
NM_000264.5(PTCH1):c.945+20G>A rs374618901 0.00040
NM_000264.5(PTCH1):c.3169-12G>A rs371887033 0.00037
NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly) rs199476092 0.00036
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His) rs145766839 0.00032
NM_003738.5(PTCH2):c.3340C>T (p.Leu1114=) rs372274925 0.00032
NM_000264.5(PTCH1):c.1216-6C>A rs186008764 0.00027
NM_003738.5(PTCH2):c.2559C>T (p.Pro853=) rs148265788 0.00026
NM_000264.5(PTCH1):c.2004C>T (p.Tyr668=) rs151216961 0.00025
NM_000264.5(PTCH1):c.2704-6T>C rs182321370 0.00025
NM_000264.5(PTCH1):c.584+14C>T rs372641261 0.00024
NM_000264.5(PTCH1):c.3150C>T (p.Pro1050=) rs149398794 0.00021
NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val) rs2227971 0.00020
NM_000264.5(PTCH1):c.3251T>C (p.Val1084Ala) rs1463935039 0.00019
NM_000264.5(PTCH1):c.1728+16T>A rs758961945 0.00017
NM_000264.5(PTCH1):c.2319C>T (p.Asp773=) rs141134542 0.00017
NM_000264.5(PTCH1):c.2560+7C>T rs75576651 0.00016
NM_000264.5(PTCH1):c.567T>C (p.His189=) rs150759973 0.00016
NM_000264.5(PTCH1):c.2485G>A (p.Val829Met) rs201125580 0.00015
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His) rs138154222 0.00014
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu) rs201595274 0.00014
NM_000264.5(PTCH1):c.4252G>A (p.Val1418Ile) rs369882883 0.00014
NM_000264.5(PTCH1):c.2595C>T (p.Thr865=) rs144512837 0.00013
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile) rs147025073 0.00012
NM_000264.5(PTCH1):c.3435C>T (p.Phe1145=) rs200435277 0.00012
NM_003738.5(PTCH2):c.1533C>T (p.Ala511=) rs76854674 0.00012
NM_000264.5(PTCH1):c.2177C>G (p.Pro726Arg) rs587780697 0.00011
NM_000264.5(PTCH1):c.2561-7T>C rs112140654 0.00011
NM_000264.5(PTCH1):c.560G>A (p.Arg187His) rs138034434 0.00011
NM_003738.5(PTCH2):c.3589G>A (p.Gly1197Arg) rs55651071 0.00011
NM_000264.5(PTCH1):c.1809C>T (p.Arg603=) rs145690756 0.00010
NM_000264.5(PTCH1):c.3908G>A (p.Arg1303His) rs779365332 0.00010
NM_000264.5(PTCH1):c.174C>T (p.Ala58=) rs368563182 0.00009
NM_000264.5(PTCH1):c.3531C>T (p.Phe1177=) rs587780702 0.00009
NM_000264.5(PTCH1):c.4219G>A (p.Gly1407Ser) rs56161606 0.00009
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr) rs150069331 0.00008
NM_000264.5(PTCH1):c.2170G>A (p.Glu724Lys) rs144501989 0.00008
NM_000264.5(PTCH1):c.3792C>T (p.Phe1264=) rs144312968 0.00008
NM_000264.5(PTCH1):c.801G>A (p.Glu267=) rs374155092 0.00008
NM_000264.5(PTCH1):c.3963C>T (p.Asp1321=) rs139071993 0.00007
NM_000264.5(PTCH1):c.146A>G (p.Tyr49Cys) rs774156512 0.00006
NM_000264.5(PTCH1):c.2074G>A (p.Val692Met) rs758487789 0.00006
NM_000264.5(PTCH1):c.2689A>G (p.Ile897Val) rs758483793 0.00006
NM_000264.5(PTCH1):c.3449+11G>A rs568528640 0.00006
NM_000264.5(PTCH1):c.3648C>T (p.Ser1216=) rs377608291 0.00006
NM_000264.5(PTCH1):c.946-13C>T rs200749389 0.00006
NM_003738.5(PTCH2):c.2248G>A (p.Ala750Thr) rs529700882 0.00006
NM_000264.5(PTCH1):c.2068G>A (p.Val690Ile) rs750970743 0.00005
NM_000264.5(PTCH1):c.2497A>G (p.Met833Val) rs771222407 0.00005
NM_000264.5(PTCH1):c.4013G>A (p.Arg1338His) rs771238114 0.00005
NM_003738.5(PTCH2):c.190T>C (p.Leu64=) rs199655603 0.00005
NM_000264.5(PTCH1):c.101G>C (p.Arg34Thr) rs771847879 0.00004
NM_000264.5(PTCH1):c.1063G>A (p.Val355Ile) rs555332902 0.00004
NM_000264.5(PTCH1):c.1223A>G (p.His408Arg) rs763941524 0.00004
NM_000264.5(PTCH1):c.1388C>G (p.Ser463Cys) rs764195249 0.00004
NM_000264.5(PTCH1):c.1710G>T (p.Leu570=) rs374924167 0.00004
NM_000264.5(PTCH1):c.1894G>A (p.Asp632Asn) rs559293815 0.00004
NM_000264.5(PTCH1):c.1994G>A (p.Arg665His) rs139705799 0.00004
NM_000264.5(PTCH1):c.2049C>T (p.Ser683=) rs756242911 0.00004
NM_000264.5(PTCH1):c.3375C>T (p.Pro1125=) rs369760318 0.00004
NM_000264.5(PTCH1):c.3436G>A (p.Asp1146Asn) rs749542089 0.00004
NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His) rs762040036 0.00004
NM_000264.5(PTCH1):c.3817G>A (p.Glu1273Lys) rs749244396 0.00004
NM_000264.5(PTCH1):c.404G>A (p.Arg135Gln) rs375628555 0.00004
NM_000264.5(PTCH1):c.4086C>T (p.Pro1362=) rs375588552 0.00004
NM_000264.5(PTCH1):c.91G>A (p.Gly31Arg) rs768512190 0.00004
NM_003738.5(PTCH2):c.2142G>A (p.Thr714=) rs200329309 0.00004
NM_003738.5(PTCH2):c.2372-4C>T rs192320525 0.00004
NM_000264.5(PTCH1):c.107C>G (p.Thr36Arg) rs1449765833 0.00003
NM_000264.5(PTCH1):c.123T>C (p.Arg41=) rs368070922 0.00003
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) rs753002023 0.00003
NM_000264.5(PTCH1):c.3240C>T (p.Ala1080=) rs200347952 0.00003
NM_000264.5(PTCH1):c.3390C>T (p.Ala1130=) rs762637887 0.00003
NM_000264.5(PTCH1):c.3739G>A (p.Ala1247Thr) rs369966295 0.00003
NM_000264.5(PTCH1):c.3758A>G (p.Gln1253Arg) rs146390067 0.00003
NM_000264.5(PTCH1):c.379G>A (p.Glu127Lys) rs774822170 0.00003
NM_000264.5(PTCH1):c.3808G>A (p.Val1270Ile) rs938997251 0.00003
NM_000264.5(PTCH1):c.3881C>T (p.Pro1294Leu) rs767166469 0.00003
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln) rs386833412 0.00003
NM_000264.5(PTCH1):c.4012C>T (p.Arg1338Cys) rs374346190 0.00003
NM_000264.5(PTCH1):c.4140C>T (p.Ala1380=) rs752595145 0.00003
NM_003738.5(PTCH2):c.1054C>T (p.Leu352=) rs200855030 0.00003
NM_003738.5(PTCH2):c.44C>T (p.Thr15Ile) rs561781541 0.00003
NM_003738.5(PTCH2):c.945C>T (p.Ala315=) rs201325645 0.00003
NM_000264.5(PTCH1):c.1039G>C (p.Val347Leu) rs1060502279 0.00002
NM_000264.5(PTCH1):c.104G>A (p.Arg35Gln) rs587778627 0.00002
NM_000264.5(PTCH1):c.1058A>G (p.Lys353Arg) rs757579309 0.00002
NM_000264.5(PTCH1):c.1192G>A (p.Ala398Thr) rs937023804 0.00002
NM_000264.5(PTCH1):c.1207T>C (p.Tyr403His) rs1349048226 0.00002
NM_000264.5(PTCH1):c.1215+14C>T rs367857273 0.00002
NM_000264.5(PTCH1):c.1324G>A (p.Val442Met) rs759493890 0.00002
NM_000264.5(PTCH1):c.1351G>A (p.Ala451Thr) rs142791675 0.00002
NM_000264.5(PTCH1):c.1810G>A (p.Glu604Lys) rs778627715 0.00002
NM_000264.5(PTCH1):c.1912C>T (p.Arg638Cys) rs1053507002 0.00002
NM_000264.5(PTCH1):c.1942C>G (p.His648Asp) rs149762881 0.00002
NM_000264.5(PTCH1):c.2105C>G (p.Pro702Arg) rs368362152 0.00002
NM_000264.5(PTCH1):c.2303C>T (p.Thr768Ile) rs878853850 0.00002
NM_000264.5(PTCH1):c.2348G>A (p.Arg783Gln) rs779296683 0.00002
NM_000264.5(PTCH1):c.2797G>A (p.Ala933Thr) rs373120584 0.00002
NM_000264.5(PTCH1):c.2938G>A (p.Gly980Ser) rs778337760 0.00002
NM_000264.5(PTCH1):c.3067G>A (p.Gly1023Ser) rs752317944 0.00002
NM_000264.5(PTCH1):c.3100G>A (p.Val1034Met) rs760902564 0.00002
NM_000264.5(PTCH1):c.3391G>A (p.Val1131Met) rs566619057 0.00002
NM_000264.5(PTCH1):c.3541T>C (p.Tyr1181His) rs367784268 0.00002
NM_000264.5(PTCH1):c.3610G>A (p.Val1204Met) rs370675945 0.00002
NM_000264.5(PTCH1):c.3623C>T (p.Ala1208Val) rs914090288 0.00002
NM_000264.5(PTCH1):c.3649G>A (p.Gly1217Arg) rs768986314 0.00002
NM_000264.5(PTCH1):c.3676A>G (p.Ser1226Gly) rs890755179 0.00002
NM_000264.5(PTCH1):c.3724G>A (p.Glu1242Lys) rs779417284 0.00002
NM_000264.5(PTCH1):c.4030G>T (p.Ala1344Ser) rs765017975 0.00002
NM_000264.5(PTCH1):c.4034G>A (p.Arg1345His) rs766315655 0.00002
NM_000264.5(PTCH1):c.4085C>T (p.Pro1362Leu) rs777731495 0.00002
NM_000264.5(PTCH1):c.4151C>T (p.Pro1384Leu) rs146447673 0.00002
NM_000264.5(PTCH1):c.61A>C (p.Ile21Leu) rs756724967 0.00002
NM_000264.5(PTCH1):c.658A>G (p.Ile220Val) rs768776930 0.00002
NM_000264.5(PTCH1):c.724C>G (p.Gln242Glu) rs376353501 0.00002
NM_000264.5(PTCH1):c.955A>G (p.Met319Val) rs1438545679 0.00002
NM_000264.5(PTCH1):c.1068-8T>C rs1194212093 0.00001
NM_000264.5(PTCH1):c.1099A>G (p.Met367Val) rs753152792 0.00001
NM_000264.5(PTCH1):c.110G>A (p.Gly37Glu) rs748780206 0.00001
NM_000264.5(PTCH1):c.1137C>T (p.Tyr379=) rs587780690 0.00001
NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys) rs772903899 0.00001
NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr) rs199476091 0.00001
NM_000264.5(PTCH1):c.1238A>G (p.Gln413Arg) rs975634341 0.00001
NM_000264.5(PTCH1):c.127G>A (p.Ala43Thr) rs766536174 0.00001
NM_000264.5(PTCH1):c.158C>T (p.Pro53Leu) rs372546614 0.00001
NM_000264.5(PTCH1):c.1625A>G (p.Lys542Arg) rs758673714 0.00001
NM_000264.5(PTCH1):c.1642G>A (p.Val548Met) rs575035810 0.00001
NM_000264.5(PTCH1):c.1669A>G (p.Thr557Ala) rs772312984 0.00001
NM_000264.5(PTCH1):c.1864G>C (p.Val622Leu) rs765258547 0.00001
NM_000264.5(PTCH1):c.1955A>G (p.His652Arg) rs1420640611 0.00001
NM_000264.5(PTCH1):c.1975C>G (p.Gln659Glu) rs1268572514 0.00001
NM_000264.5(PTCH1):c.1981A>G (p.Thr661Ala) rs753850577 0.00001
NM_000264.5(PTCH1):c.2005G>A (p.Asp669Asn) rs772574714 0.00001
NM_000264.5(PTCH1):c.2045G>A (p.Arg682His) rs1366288601 0.00001
NM_000264.5(PTCH1):c.2073C>T (p.Thr691=) rs371643436 0.00001
NM_000264.5(PTCH1):c.2096G>T (p.Cys699Phe) rs547829353 0.00001
NM_000264.5(PTCH1):c.2117G>C (p.Ser706Thr) rs140497736 0.00001
NM_000264.5(PTCH1):c.2130C>A (p.Asp710Glu) rs774362306 0.00001
NM_000264.5(PTCH1):c.2149G>A (p.Asp717Asn) rs1311707136 0.00001
NM_000264.5(PTCH1):c.216C>T (p.Gly72=) rs1383963652 0.00001
NM_000264.5(PTCH1):c.2174C>G (p.Pro725Arg) rs963297092 0.00001
NM_000264.5(PTCH1):c.228G>A (p.Pro76=) rs140542305 0.00001
NM_000264.5(PTCH1):c.2309G>A (p.Arg770Gln) rs762942660 0.00001
NM_000264.5(PTCH1):c.2440A>C (p.Asn814His) rs754623561 0.00001
NM_000264.5(PTCH1):c.2443A>G (p.Ile815Val) rs375257965 0.00001
NM_000264.5(PTCH1):c.2461G>A (p.Asp821Asn) rs762855028 0.00001
NM_000264.5(PTCH1):c.2615A>G (p.Asn872Ser) rs769029578 0.00001
NM_000264.5(PTCH1):c.2677C>T (p.Arg893Cys) rs753008328 0.00001
NM_000264.5(PTCH1):c.2737A>G (p.Ile913Val) rs147643145 0.00001
NM_000264.5(PTCH1):c.2824C>T (p.Arg942Trp) rs756465236 0.00001
NM_000264.5(PTCH1):c.2852A>G (p.Asp951Gly) rs752126122 0.00001
NM_000264.5(PTCH1):c.293G>A (p.Cys98Tyr) rs746435405 0.00001
NM_000264.5(PTCH1):c.2945G>A (p.Arg982Gln) rs145924695 0.00001
NM_000264.5(PTCH1):c.3088C>G (p.Leu1030Val) rs1040729718 0.00001
NM_000264.5(PTCH1):c.3128G>T (p.Cys1043Phe) rs1345405015 0.00001
NM_000264.5(PTCH1):c.3156G>A (p.Thr1052=) rs549164233 0.00001
NM_000264.5(PTCH1):c.3169-5T>C rs367654039 0.00001
NM_000264.5(PTCH1):c.3262G>A (p.Ala1088Thr) rs150217389 0.00001
NM_000264.5(PTCH1):c.3292G>A (p.Val1098Ile) rs748726158 0.00001
NM_000264.5(PTCH1):c.3322A>G (p.Ile1108Val) rs866037881 0.00001
NM_000264.5(PTCH1):c.3327C>T (p.Gly1109=) rs779950790 0.00001
NM_000264.5(PTCH1):c.3337C>T (p.Arg1113Cys) rs758520331 0.00001
NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=) rs756638660 0.00001
NM_000264.5(PTCH1):c.3442A>G (p.Ile1148Val) rs369265532 0.00001
NM_000264.5(PTCH1):c.3565G>A (p.Gly1189Ser) rs767535853 0.00001
NM_000264.5(PTCH1):c.3706G>A (p.Glu1236Lys) rs779844193 0.00001
NM_000264.5(PTCH1):c.3787G>A (p.Val1263Ile) rs752831580 0.00001
NM_000264.5(PTCH1):c.3827A>G (p.His1276Arg) rs1445693994 0.00001
NM_000264.5(PTCH1):c.3836C>T (p.Pro1279Leu) rs747128318 0.00001
NM_000264.5(PTCH1):c.3886G>A (p.Gly1296Arg) rs372828014 0.00001
NM_000264.5(PTCH1):c.3920C>G (p.Pro1307Arg) rs181585555 0.00001
NM_000264.5(PTCH1):c.394+6_394+17del rs774338309 0.00001
NM_000264.5(PTCH1):c.3940C>T (p.Pro1314Ser) rs574856671 0.00001
NM_000264.5(PTCH1):c.3941C>T (p.Pro1314Leu) rs1400282737 0.00001
NM_000264.5(PTCH1):c.3943C>T (p.Pro1315Ser) rs746022197 0.00001
NM_000264.5(PTCH1):c.4046C>T (p.Pro1349Leu) rs773298544 0.00001
NM_000264.5(PTCH1):c.4050G>A (p.Arg1350=) rs748440992 0.00001
NM_000264.5(PTCH1):c.4058C>T (p.Ala1353Val) rs777096311 0.00001
NM_000264.5(PTCH1):c.454A>G (p.Met152Val) rs766905791 0.00001
NM_000264.5(PTCH1):c.463C>T (p.Pro155Ser) rs369105527 0.00001
NM_000264.5(PTCH1):c.500C>A (p.Ala167Asp) rs587780707 0.00001
NM_000264.5(PTCH1):c.514A>G (p.Thr172Ala) rs1244945859 0.00001
NM_000264.5(PTCH1):c.574A>G (p.Met192Val) rs763513784 0.00001
NM_000264.5(PTCH1):c.646A>G (p.Met216Val) rs587780709 0.00001
NM_000264.5(PTCH1):c.728C>T (p.Ser243Phe) rs141265422 0.00001
NM_000264.5(PTCH1):c.752A>G (p.Lys251Arg) rs754650075 0.00001
NM_000264.5(PTCH1):c.778G>A (p.Asp260Asn) rs765174527 0.00001
NM_000264.5(PTCH1):c.878A>G (p.Asp293Gly) rs768095469 0.00001
NM_000264.5(PTCH1):c.893A>G (p.Asn298Ser) rs1456514392 0.00001
NM_000264.5(PTCH1):c.92G>A (p.Gly31Glu) rs1329331221 0.00001
NM_000264.5(PTCH1):c.956T>C (p.Met319Thr) rs867609005 0.00001
NM_003738.5(PTCH2):c.1611C>T (p.Cys537=) rs372959991 0.00001
NM_003738.5(PTCH2):c.525+19A>C rs770589703 0.00001
NM_000264.5(PTCH1):c.-24GGC[3] rs71366293
NM_000264.5(PTCH1):c.-24GGC[4] rs71366293
NM_000264.5(PTCH1):c.-24GGC[6] rs71366293
NM_000264.5(PTCH1):c.-24GGC[8] rs71366293
NM_000264.5(PTCH1):c.-24GGC[9] rs71366293
NM_000264.5(PTCH1):c.1052C>G (p.Thr351Ser)
NM_000264.5(PTCH1):c.1087A>G (p.Met363Val) rs1342698215
NM_000264.5(PTCH1):c.109G>T (p.Gly37Trp) rs199976372
NM_000264.5(PTCH1):c.1126T>C (p.Phe376Leu)
NM_000264.5(PTCH1):c.113G>T (p.Gly38Val) rs143494325
NM_000264.5(PTCH1):c.1247C>T (p.Thr416Ile) rs201174718
NM_000264.5(PTCH1):c.1254G>T (p.Lys418Asn) rs1227338966
NM_000264.5(PTCH1):c.1266C>T (p.Phe422=)
NM_000264.5(PTCH1):c.1348-17del
NM_000264.5(PTCH1):c.135G>A (p.Pro45=)
NM_000264.5(PTCH1):c.140G>C (p.Arg47Pro)
NM_000264.5(PTCH1):c.140G>T (p.Arg47Leu) rs775408408
NM_000264.5(PTCH1):c.1473C>G (p.Ile491Met) rs768183391
NM_000264.5(PTCH1):c.1504-8del rs2118287389
NM_000264.5(PTCH1):c.1561G>A (p.Ala521Thr) rs781101191
NM_000264.5(PTCH1):c.1592T>C (p.Ile531Thr) rs1227526379
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000264.5(PTCH1):c.1603-9dup rs759445912
NM_000264.5(PTCH1):c.1681A>G (p.Met561Val) rs1332335605
NM_000264.5(PTCH1):c.1686C>G (p.Ala562=) rs2066836
NM_000264.5(PTCH1):c.1716G>A (p.Ala572=) rs55844310
NM_000264.5(PTCH1):c.1729-11del rs779000277
NM_000264.5(PTCH1):c.1729-11dup rs779000277
NM_000264.5(PTCH1):c.1782A>G (p.Ala594=)
NM_000264.5(PTCH1):c.186G>A (p.Leu62=)
NM_000264.5(PTCH1):c.1904A>G (p.Asp635Gly)
NM_000264.5(PTCH1):c.1915T>C (p.Tyr639His)
NM_000264.5(PTCH1):c.1925C>A (p.Pro642Gln) rs762371629
NM_000264.5(PTCH1):c.1962G>T (p.Thr654=) rs201544613
NM_000264.5(PTCH1):c.2014A>G (p.Thr672Ala)
NM_000264.5(PTCH1):c.2156G>A (p.Ser719Asn) rs1840282022
NM_000264.5(PTCH1):c.2177C>A (p.Pro726His) rs587780697
NM_000264.5(PTCH1):c.2238A>T (p.Lys746Asn) rs776817244
NM_000264.5(PTCH1):c.2485G>T (p.Val829Leu) rs201125580
NM_000264.5(PTCH1):c.2570A>G (p.Asp857Gly)
NM_000264.5(PTCH1):c.275G>A (p.Cys92Tyr)
NM_000264.5(PTCH1):c.2868G>A (p.Met956Ile) rs761501958
NM_000264.5(PTCH1):c.2876C>T (p.Thr959Ile) rs776378611
NM_000264.5(PTCH1):c.2888-8C>T rs567994836
NM_000264.5(PTCH1):c.2922C>G (p.Phe974Leu)
NM_000264.5(PTCH1):c.2975A>G (p.Glu992Gly)
NM_000264.5(PTCH1):c.3046C>T (p.Leu1016Phe) rs374575067
NM_000264.5(PTCH1):c.3126G>A (p.Val1042=)
NM_000264.5(PTCH1):c.312G>A (p.Val104=)
NM_000264.5(PTCH1):c.3182C>T (p.Ala1061Val) rs1409913416
NM_000264.5(PTCH1):c.321C>T (p.Leu107=)
NM_000264.5(PTCH1):c.3255C>T (p.Ile1085=)
NM_000264.5(PTCH1):c.3344C>T (p.Ala1115Val) rs779192138
NM_000264.5(PTCH1):c.3346G>C (p.Val1116Leu)
NM_000264.5(PTCH1):c.336C>A (p.Phe112Leu)
NM_000264.5(PTCH1):c.3472A>T (p.Ile1158Phe) rs368636457
NM_000264.5(PTCH1):c.3481A>G (p.Ile1161Val) rs202102540
NM_000264.5(PTCH1):c.3525G>A (p.Leu1175=)
NM_000264.5(PTCH1):c.355G>A (p.Ala119Thr)
NM_000264.5(PTCH1):c.3565G>T (p.Gly1189Cys) rs767535853
NM_000264.5(PTCH1):c.3588C>T (p.Pro1196=)
NM_000264.5(PTCH1):c.361C>T (p.Leu121Phe) rs776424978
NM_000264.5(PTCH1):c.3624C>A (p.Ala1208=) rs149691476
NM_000264.5(PTCH1):c.3624C>T (p.Ala1208=) rs149691476
NM_000264.5(PTCH1):c.3625A>G (p.Met1209Val)
NM_000264.5(PTCH1):c.363C>T (p.Leu121=)
NM_000264.5(PTCH1):c.3650G>A (p.Gly1217Glu)
NM_000264.5(PTCH1):c.373G>A (p.Val125Met) rs760253622
NM_000264.5(PTCH1):c.3743G>C (p.Gly1248Ala) rs375857496
NM_000264.5(PTCH1):c.3754C>G (p.His1252Asp) rs780990429
NM_000264.5(PTCH1):c.3754C>T (p.His1252Tyr)
NM_000264.5(PTCH1):c.3796C>T (p.His1266Tyr) rs751826546
NM_000264.5(PTCH1):c.3809T>C (p.Val1270Ala) rs1342034180
NM_000264.5(PTCH1):c.3896G>A (p.Gly1299Asp) rs773133083
NM_000264.5(PTCH1):c.3905C>T (p.Pro1302Leu) rs780042369
NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu) rs779365332
NM_000264.5(PTCH1):c.3919C>G (p.Pro1307Ala) rs574880967
NM_000264.5(PTCH1):c.3920C>A (p.Pro1307His) rs181585555
NM_000264.5(PTCH1):c.3924A>T (p.Arg1308Ser) rs762725821
NM_000264.5(PTCH1):c.3929G>T (p.Gly1310Val) rs773043616
NM_000264.5(PTCH1):c.3931T>C (p.Leu1311=)
NM_000264.5(PTCH1):c.3936G>T (p.Trp1312Cys) rs1360926879
NM_000264.5(PTCH1):c.3943C>G (p.Pro1315Ala)
NM_000264.5(PTCH1):c.3944C>A (p.Pro1315His) rs357564
NM_000264.5(PTCH1):c.3944C>G (p.Pro1315Arg) rs357564
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.5(PTCH1):c.3949A>G (p.Arg1317Gly) rs1482005246
NM_000264.5(PTCH1):c.3953C>G (p.Pro1318Arg) rs536440590
NM_000264.5(PTCH1):c.3953C>T (p.Pro1318Leu) rs536440590
NM_000264.5(PTCH1):c.4014_4034del (p.Trp1339_Arg1345del) rs774819810
NM_000264.5(PTCH1):c.4033C>G (p.Arg1345Gly) rs556901417
NM_000264.5(PTCH1):c.4048C>G (p.Arg1350Gly) rs140417636
NM_000264.5(PTCH1):c.405A>G (p.Arg135=)
NM_000264.5(PTCH1):c.4069A>T (p.Met1357Leu) rs757909121
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000264.5(PTCH1):c.40GGC[5] (p.Gly17dup) rs756897237
NM_000264.5(PTCH1):c.429T>A (p.Thr143=)
NM_000264.5(PTCH1):c.508C>G (p.Leu170Val) rs1841917213
NM_000264.5(PTCH1):c.52A>T (p.Ser18Cys)
NM_000264.5(PTCH1):c.571T>C (p.Tyr191His) rs1480028040
NM_000264.5(PTCH1):c.606G>T (p.Leu202Phe) rs769719333
NM_000264.5(PTCH1):c.70C>A (p.Pro24Thr)
NM_000264.5(PTCH1):c.74G>C (p.Gly25Ala) rs774712511
NM_000264.5(PTCH1):c.763C>T (p.Arg255Trp) rs925067209
NM_003738.5(PTCH2):c.1216-5dup rs1557645739
NM_003738.5(PTCH2):c.1506C>G (p.Val502=) rs11573582
NM_003738.5(PTCH2):c.1506C>T (p.Val502=) rs11573582
NM_003738.5(PTCH2):c.1709+11C>T
NM_003738.5(PTCH2):c.1864C>A (p.His622Asn) rs11573586
NM_003738.5(PTCH2):c.1864C>T (p.His622Tyr) rs11573586
NM_003738.5(PTCH2):c.2427G>C (p.Ser809=) rs111471526
NM_003738.5(PTCH2):c.266-16_266-15del rs756782903
NM_003738.5(PTCH2):c.3258-16del
NM_003738.5(PTCH2):c.732C>T (p.Gly244=)

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