ClinVar Miner

List of variants in gene PTCH1 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.3306+83dup rs5899258 0.45976
NM_000264.5(PTCH1):c.1348-136C>T rs2297086 0.44647
NM_000264.5(PTCH1):c.2561-80G>C rs2274692 0.44599
NM_000264.5(PTCH1):c.747-114C>T rs2297088 0.44525
NM_000264.5(PTCH1):c.2887+21A>G rs2236406 0.44137
NM_001083603.3(PTCH1):c.198+261G>T rs28591501 0.37633
NM_000264.5(PTCH1):c.201+275T>C rs1355620 0.37553
NM_000264.5(PTCH1):c.*3232G>T rs357565 0.24468
NM_000264.5(PTCH1):c.1067+139T>C rs2274694 0.23224
NM_000264.5(PTCH1):c.747-55T>C rs2297087 0.23055
NM_000264.5(PTCH1):c.*3030A>G rs28485160 0.20192
NM_000264.5(PTCH1):c.1504-51C>G rs574688 0.19156
NM_000264.3(PTCH1):c.-8727A>T rs28704635 0.16898
NM_000264.5(PTCH1):c.1686C>T (p.Ala562=) rs2066836 0.15395
NM_000264.5(PTCH1):c.1665T>C (p.Asn555=) rs1805155 0.12597
NM_000264.5(PTCH1):c.395-231T>C rs2282041 0.12136
NM_000264.5(PTCH1):c.395-276_395-275insT rs3215874 0.11241
NM_000264.5(PTCH1):c.395-172T>C rs2282040 0.10585
NM_000264.5(PTCH1):c.584+177G>A rs28673156 0.10583
NM_000264.5(PTCH1):c.3449+129A>G rs28583690 0.09835
NM_000264.5(PTCH1):c.*2275T>A rs28380046 0.09501
NM_001083603.3(PTCH1):c.198+492G>A rs113154802 0.08053
NM_000264.5(PTCH1):c.1504-8T>C rs2277184 0.07277
NM_000264.5(PTCH1):c.*237G>C rs28688501 0.06717
NM_000264.5(PTCH1):c.3805-225C>T rs77789632 0.05529
NM_000264.5(PTCH1):c.*1373G>C rs16909865 0.05498
NM_000264.5(PTCH1):c.1067+74A>G rs55706201 0.04737
NM_000264.5(PTCH1):c.*1905C>G rs113213198 0.04659
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_000264.5(PTCH1):c.3307-66G>C rs2274690 0.04654
NM_000264.5(PTCH1):c.*1616A>C rs73540181 0.04606
NM_000264.5(PTCH1):c.*1709G>A rs73540175 0.04602
NM_000264.5(PTCH1):c.3141T>G (p.Leu1047=) rs2066835 0.03773
NM_000264.5(PTCH1):c.2703+282G>A rs28441412 0.03255
NM_000264.5(PTCH1):c.*1702C>T rs115675849 0.02824
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759 0.02608
NM_000264.5(PTCH1):c.3307-152G>A rs55989544 0.02262
NM_000264.5(PTCH1):c.735A>G (p.Thr245=) rs1805154 0.02243
NM_000264.5(PTCH1):c.3805-197T>A rs76562151 0.02086
NM_000264.5(PTCH1):c.2888-271G>A rs56163504 0.01758
NM_000264.5(PTCH1):c.1216-201C>T rs56319001 0.01623
NM_000264.5(PTCH1):c.318C>T (p.Leu106=) rs1805153 0.01567
NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=) rs138240178 0.01089
NM_000264.5(PTCH1):c.*1+37A>G rs56237839 0.00987
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=) rs2066830 0.00827
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971 0.00732
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_000264.5(PTCH1):c.*2276A>T rs868749157 0.00625
NM_000264.5(PTCH1):c.394+71A>G rs554272795 0.00546
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=) rs58629309 0.00466
NM_000264.5(PTCH1):c.2799G>A (p.Ala933=) rs111446700 0.00379
NM_000264.5(PTCH1):c.3804+32T>C rs199982439 0.00236
NM_000264.5(PTCH1):c.2680G>A (p.Asp894Asn) rs56173896 0.00088
NM_000264.5(PTCH1):c.*1132G>A rs572803728 0.00083
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=) rs28446339 0.00076
NM_000264.5(PTCH1):c.2888-44C>T rs45602737 0.00075
NM_000264.5(PTCH1):c.3805-9C>T rs2236404 0.00072
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=) rs2229062 0.00063
NM_000264.5(PTCH1):c.*2175G>A rs188061818 0.00051
NM_000264.5(PTCH1):c.2704-6T>C rs182321370 0.00025
NM_000264.5(PTCH1):c.4218C>T (p.His1406=) rs372558350 0.00023
NM_000264.5(PTCH1):c.1488C>T (p.Asn496=) rs577742581 0.00020
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.3435C>T (p.Phe1145=) rs200435277 0.00012
NM_000264.5(PTCH1):c.2859C>T (p.Ala953=) rs142131559 0.00010
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=) rs369295226 0.00009
NM_000264.5(PTCH1):c.882C>T (p.Arg294=) rs145893445 0.00007
NM_000264.5(PTCH1):c.3648C>T (p.Ser1216=) rs377608291 0.00006
NM_000264.5(PTCH1):c.3375C>T (p.Pro1125=) rs369760318 0.00004
NM_000264.5(PTCH1):c.624G>A (p.Glu208=) rs777231059 0.00004
NM_000264.5(PTCH1):c.3390C>T (p.Ala1130=) rs762637887 0.00003
NM_000264.5(PTCH1):c.3634G>A (p.Gly1212Ser) rs559827048 0.00003
NM_000264.5(PTCH1):c.3006G>A (p.Thr1002=) rs142362404 0.00002
NM_000264.5(PTCH1):c.228G>A (p.Pro76=) rs140542305 0.00001
NM_000264.5(PTCH1):c.3169-5T>C rs367654039 0.00001
NM_000264.5(PTCH1):c.3940C>T (p.Pro1314Ser) rs574856671 0.00001
NM_000264.5(PTCH1):c.*1866TG[7]
NM_000264.5(PTCH1):c.*1884CGTG[4]
NM_000264.5(PTCH1):c.*664dup rs111365480
NM_000264.5(PTCH1):c.1067+107G>A rs55873843
NM_000264.5(PTCH1):c.1173A>G (p.Lys391=) rs2118365117
NM_000264.5(PTCH1):c.1347+6G>T rs372655486
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000264.5(PTCH1):c.201+101T>A rs79663574
NM_000264.5(PTCH1):c.201+115_201+122del rs71366292
NM_000264.5(PTCH1):c.201+119_201+120del rs369915085
NM_000264.5(PTCH1):c.201+123_201+126del rs139100790
NM_000264.5(PTCH1):c.201+242GT[8] rs139956254
NM_000264.5(PTCH1):c.201+242GT[9] rs139956254
NM_000264.5(PTCH1):c.201+272T>C rs1355619
NM_000264.5(PTCH1):c.2561-207C>G rs28698995
NM_000264.5(PTCH1):c.2704-69C>A rs1189467853
NM_000264.5(PTCH1):c.2888-8C>T rs567994836
NM_000264.5(PTCH1):c.3605C>T (p.Pro1202Leu) rs374097441
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.3666C>T (p.Asp1222=) rs777377921
NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met) rs150850039
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.5(PTCH1):c.395-82T>A rs2118555124
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=) rs62637631

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