ClinVar Miner

List of variants in gene PTCH1 reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP
NM_000264.4(PTCH1):c.1602+15_1602+17delAAA rs528001004
NM_001083602.2(PTCH1):c.*1066A>C rs185406054
NM_001083602.2(PTCH1):c.*1075A>C rs1020973772
NM_001083602.2(PTCH1):c.*1220A>G rs930382710
NM_001083602.2(PTCH1):c.*1358G>A rs756098510
NM_001083602.2(PTCH1):c.*1373G>C rs16909865
NM_001083602.2(PTCH1):c.*1413C>G rs1057515714
NM_001083602.2(PTCH1):c.*1535T>C rs112320257
NM_001083602.2(PTCH1):c.*1545T>C rs113253600
NM_001083602.2(PTCH1):c.*1616A>C rs73540181
NM_001083602.2(PTCH1):c.*1648A>G rs1057515713
NM_001083602.2(PTCH1):c.*168C>A rs769353632
NM_001083602.2(PTCH1):c.*1702C>T rs115675849
NM_001083602.2(PTCH1):c.*1708C>T rs146131736
NM_001083602.2(PTCH1):c.*1709G>A rs73540175
NM_001083602.2(PTCH1):c.*1866_*1867TG[10] rs59205702
NM_001083602.2(PTCH1):c.*1866_*1867TG[12] rs59205702
NM_001083602.2(PTCH1):c.*186T>G rs977327674
NM_001083602.2(PTCH1):c.*1893_*1894GT[4] rs531572088
NM_001083602.2(PTCH1):c.*1896T>C rs949498288
NM_001083602.2(PTCH1):c.*1904T>C rs992648722
NM_001083602.2(PTCH1):c.*1905C>G rs113213198
NM_001083602.2(PTCH1):c.*2070C>G rs142942544
NM_001083602.2(PTCH1):c.*2146A>G rs538345753
NM_001083602.2(PTCH1):c.*2175G>A rs188061818
NM_001083602.2(PTCH1):c.*2275T>A rs28380046
NM_001083602.2(PTCH1):c.*2276A>T rs868749157
NM_001083602.2(PTCH1):c.*2288dup rs548096592
NM_001083602.2(PTCH1):c.*231T>C rs28401363
NM_001083602.2(PTCH1):c.*237G>C rs28688501
NM_001083602.2(PTCH1):c.*2644A>C rs773680534
NM_001083602.2(PTCH1):c.*2988_*2991TTGT[1] rs139748418
NM_001083602.2(PTCH1):c.*3030A>G rs28485160
NM_001083602.2(PTCH1):c.*3080G>T rs1006981555
NM_001083602.2(PTCH1):c.*3157G>A rs118174136
NM_001083602.2(PTCH1):c.*3209T>C rs757611119
NM_001083602.2(PTCH1):c.*3213T>C rs992312438
NM_001083602.2(PTCH1):c.*3232G>T rs357565
NM_001083602.2(PTCH1):c.*3272C>T rs963000528
NM_001083602.2(PTCH1):c.*3337T>C rs551093780
NM_001083602.2(PTCH1):c.*3341T>C rs138499623
NM_001083602.2(PTCH1):c.*556G>A rs964764151
NM_001083602.2(PTCH1):c.*623C>T rs776158552
NM_001083602.2(PTCH1):c.*664dup rs111365480
NM_001083602.2(PTCH1):c.*748_*749insACTT rs147342582
NM_001083602.2(PTCH1):c.*748_*749insATTT rs1554687587
NM_001083602.2(PTCH1):c.*780C>T rs75765727
NM_001083602.2(PTCH1):c.*801C>T rs114243832
NM_001083602.2(PTCH1):c.*851G>C rs73540186
NM_001083602.2(PTCH1):c.1018-6C>A rs186008764
NM_001083602.2(PTCH1):c.1150-4G>A rs772826555
NM_001083602.2(PTCH1):c.120C>T (p.Leu40=) rs1805153
NM_001083602.2(PTCH1):c.1278A>G (p.Gly426=) rs1057515720
NM_001083602.2(PTCH1):c.1282T>G (p.Ser428Ala) rs1057515719
NM_001083602.2(PTCH1):c.1305+12G>A rs368083214
NM_001083602.2(PTCH1):c.1306-8T>C rs2277184
NM_001083602.2(PTCH1):c.1443C>T (p.Ser481=) rs2066830
NM_001083602.2(PTCH1):c.1455G>A (p.Thr485=) rs766039170
NM_001083602.2(PTCH1):c.1467T>C (p.Asn489=) rs1805155
NM_001083602.2(PTCH1):c.1488C>T (p.Ala496=) rs2066836
NM_001083602.2(PTCH1):c.1512G>T (p.Leu504=) rs374924167
NM_001083602.2(PTCH1):c.2480G>A (p.Arg827His) rs138154222
NM_001083602.2(PTCH1):c.2494G>A (p.Asp832Asn) rs531947455
NM_001083602.2(PTCH1):c.2589C>T (p.Asn863=) rs145196322
NM_001083602.2(PTCH1):c.2689+10G>A rs202081420
NM_001083602.2(PTCH1):c.2715T>C (p.Tyr905=) rs2229062
NM_001083602.2(PTCH1):c.2739C>T (p.Asn913=) rs58629309
NM_001083602.2(PTCH1):c.2943T>G (p.Leu981=) rs2066835
NM_001083602.2(PTCH1):c.3189C>T (p.Gly1063=) rs28446339
NM_001083602.2(PTCH1):c.3225G>A (p.Ala1075=) rs745948150
NM_001083602.2(PTCH1):c.3369C>T (p.Gly1123=) rs62637630
NM_001083602.2(PTCH1):c.3385A>T (p.Thr1129Ser) rs2236405
NM_001083602.2(PTCH1):c.3408C>T (p.Pro1136=) rs138240178
NM_001083602.2(PTCH1):c.3494T>C (p.Val1165Ala) rs182045135
NM_001083602.2(PTCH1):c.3567C>A (p.Ile1189=) rs758229027
NM_001083602.2(PTCH1):c.3607-9C>T rs2236404
NM_001083602.2(PTCH1):c.3647C>T (p.Pro1216Leu) rs2227968
NM_001083602.2(PTCH1):c.3709C>T (p.Arg1237Cys) rs56102979
NM_001083602.2(PTCH1):c.3746C>T (p.Pro1249Leu) rs357564
NM_001083602.2(PTCH1):c.3757C>T (p.Arg1253Cys) rs375998275
NM_001083602.2(PTCH1):c.3829G>A (p.Gly1277Arg) rs200100952
NM_001083602.2(PTCH1):c.3835C>T (p.Arg1279Cys) rs556901417
NM_001083602.2(PTCH1):c.3882C>T (p.Ser1294=) rs62637631
NM_001083602.2(PTCH1):c.3930C>T (p.Ser1310=) rs142148876
NM_001083602.2(PTCH1):c.3954G>A (p.Pro1318=) rs761887390
NM_001083602.2(PTCH1):c.4-1654G>C rs199976372
NM_001083602.2(PTCH1):c.4-1717G>A rs1057515721
NM_001083602.2(PTCH1):c.4-1726C>G rs779791579
NM_001083602.2(PTCH1):c.4-1840G>A rs572958276
NM_001083602.2(PTCH1):c.4126C>T (p.Arg1376Trp) rs143464326
NM_001083602.2(PTCH1):c.4127G>A (p.Arg1376Gln) rs56023271
NM_001083602.2(PTCH1):c.537A>G (p.Thr179=) rs1805154
NM_001083602.2(PTCH1):c.851G>A (p.Ser284Asn) rs779294007
NM_001083602.2(PTCH1):c.876T>C (p.His292=) rs2066832
NM_001083602.2(PTCH1):c.921C>T (p.Tyr307=) rs2066831
NM_001083602.2(PTCH1):c.922G>A (p.Glu308Lys) rs144323077

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