ClinVar Miner

List of variants in gene combination LOC100507346, PTCH1 reported as likely benign for Hereditary cancer-predisposing syndrome

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Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400 0.00098
NM_000264.5(PTCH1):c.2304C>T (p.Thr768=) rs1805156 0.00086
NM_000264.5(PTCH1):c.2050G>A (p.Glu684Lys) rs62637629 0.00061
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His) rs145766839 0.00032
NM_000264.5(PTCH1):c.2004C>T (p.Tyr668=) rs151216961 0.00025
NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val) rs2227971 0.00020
NM_000264.5(PTCH1):c.2044C>T (p.Arg682Cys) rs570441437 0.00019
NM_000264.5(PTCH1):c.2319C>T (p.Asp773=) rs141134542 0.00017
NM_000264.5(PTCH1):c.2484C>T (p.Asn828=) rs143305989 0.00016
NM_000264.5(PTCH1):c.2560+7C>T rs75576651 0.00016
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met) rs374691153 0.00015
NM_000264.5(PTCH1):c.2485G>A (p.Val829Met) rs201125580 0.00015
NM_000264.5(PTCH1):c.2148C>T (p.Ser716=) rs781475120 0.00014
NM_000264.5(PTCH1):c.2528T>C (p.Met843Thr) rs145217620 0.00012
NM_000264.5(PTCH1):c.2177C>G (p.Pro726Arg) rs587780697 0.00011
NM_000264.5(PTCH1):c.1809C>T (p.Arg603=) rs145690756 0.00010
NM_000264.5(PTCH1):c.1800A>G (p.Leu600=) rs768939676 0.00009
NM_000264.5(PTCH1):c.2215C>T (p.His739Tyr) rs200189314 0.00009
NM_000264.5(PTCH1):c.2333C>T (p.Thr778Met) rs747762028 0.00009
NM_000264.5(PTCH1):c.2170G>A (p.Glu724Lys) rs144501989 0.00008
NM_000264.5(PTCH1):c.2124A>G (p.Thr708=) rs147204440 0.00007
NM_000264.5(PTCH1):c.1808G>A (p.Arg603His) rs199523893 0.00006
NM_000264.5(PTCH1):c.1998G>A (p.Thr666=) rs369710438 0.00006
NM_000264.5(PTCH1):c.2074G>A (p.Val692Met) rs758487789 0.00006
NM_000264.5(PTCH1):c.2437C>G (p.Pro813Ala) rs45579032 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.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.2439G>A (p.Pro813=) rs151266988 0.00004
NM_000264.5(PTCH1):c.1934A>G (p.Tyr645Cys) rs772841736 0.00003
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) rs753002023 0.00003
NM_000264.5(PTCH1):c.2184G>A (p.Thr728=) rs201103723 0.00003
NM_000264.5(PTCH1):c.2506G>A (p.Glu836Lys) rs78708791 0.00003
NM_000264.5(PTCH1):c.1729-5C>T rs763030829 0.00002
NM_000264.5(PTCH1):c.1902C>T (p.His634=) rs761015917 0.00002
NM_000264.5(PTCH1):c.2043G>A (p.Pro681=) rs745862347 0.00002
NM_000264.5(PTCH1):c.2067C>T (p.Pro689=) rs758799508 0.00002
NM_000264.5(PTCH1):c.2105C>G (p.Pro702Arg) rs368362152 0.00002
NM_000264.5(PTCH1):c.2139C>T (p.Ser713=) rs143630307 0.00002
NM_000264.5(PTCH1):c.2169C>T (p.Leu723=) rs1176604355 0.00002
NM_000264.5(PTCH1):c.1735G>A (p.Val579Ile) rs751708515 0.00001
NM_000264.5(PTCH1):c.1804C>A (p.Arg602=) rs863224650 0.00001
NM_000264.5(PTCH1):c.1816A>C (p.Arg606=) rs1389910090 0.00001
NM_000264.5(PTCH1):c.1837T>C (p.Cys613Arg) rs948568790 0.00001
NM_000264.5(PTCH1):c.1845A>G (p.Thr615=) rs755882246 0.00001
NM_000264.5(PTCH1):c.1864G>C (p.Val622Leu) rs765258547 0.00001
NM_000264.5(PTCH1):c.1893C>T (p.Thr631=) rs757344587 0.00001
NM_000264.5(PTCH1):c.1992C>A (p.Leu664=) rs1466845678 0.00001
NM_000264.5(PTCH1):c.2016G>A (p.Thr672=) rs776286129 0.00001
NM_000264.5(PTCH1):c.2019C>T (p.His673=) rs587780695 0.00001
NM_000264.5(PTCH1):c.2020G>A (p.Val674Met) rs1060502291 0.00001
NM_000264.5(PTCH1):c.2022G>A (p.Val674=) rs368564259 0.00001
NM_000264.5(PTCH1):c.2034C>T (p.Thr678=) rs779883480 0.00001
NM_000264.5(PTCH1):c.2073C>T (p.Thr691=) rs371643436 0.00001
NM_000264.5(PTCH1):c.2085C>T (p.Asp695=) rs1452372504 0.00001
NM_000264.5(PTCH1):c.2118C>T (p.Ser706=) rs943011476 0.00001
NM_000264.5(PTCH1):c.2193A>T (p.Thr731=) rs760285524 0.00001
NM_000264.5(PTCH1):c.2235G>A (p.Leu745=) rs749283740 0.00001
NM_000264.5(PTCH1):c.2287G>T (p.Val763Phe) rs544963328 0.00001
NM_000264.5(PTCH1):c.2313G>A (p.Val771=) rs773304123 0.00001
NM_000264.5(PTCH1):c.2328C>A (p.Asp776Glu) rs923429610 0.00001
NM_000264.5(PTCH1):c.2334G>A (p.Thr778=) rs1369922802 0.00001
NM_000264.5(PTCH1):c.2364T>C (p.Tyr788=) rs1362991131 0.00001
NM_000264.5(PTCH1):c.2367C>T (p.Asp789=) rs908085179 0.00001
NM_000264.5(PTCH1):c.2370T>C (p.Phe790=) rs1060502300 0.00001
NM_000264.5(PTCH1):c.2379A>G (p.Ala793=) rs140673214 0.00001
NM_000264.5(PTCH1):c.2391C>T (p.Tyr797=) rs778260156 0.00001
NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=) rs766227557 0.00001
NM_000264.5(PTCH1):c.2466A>G (p.Leu822=) rs750317626 0.00001
NM_000264.5(PTCH1):c.2469C>T (p.His823=) rs761707282 0.00001
NM_000264.5(PTCH1):c.2505A>G (p.Glu835=) rs749651063 0.00001
NM_000264.5(PTCH1):c.2558A>G (p.Gln853Arg) rs587778628 0.00001
NM_000264.5(PTCH1):c.2560+10C>T rs779855404 0.00001
NM_000264.5(PTCH1):c.1731A>C (p.Ala577=)
NM_000264.5(PTCH1):c.1734G>A (p.Ala578=) rs765440424
NM_000264.5(PTCH1):c.1740A>T (p.Val580=)
NM_000264.5(PTCH1):c.1746G>A (p.Val582=) rs1588578518
NM_000264.5(PTCH1):c.1758C>A (p.Ala586=) rs2118096020
NM_000264.5(PTCH1):c.1767G>A (p.Leu589=)
NM_000264.5(PTCH1):c.1770C>T (p.Leu590=)
NM_000264.5(PTCH1):c.1791C>T (p.Ser597=)
NM_000264.5(PTCH1):c.1809C>G (p.Arg603=) rs145690756
NM_000264.5(PTCH1):c.1818G>A (p.Arg606=)
NM_000264.5(PTCH1):c.1821A>G (p.Arg607=)
NM_000264.5(PTCH1):c.1833C>T (p.Phe611=)
NM_000264.5(PTCH1):c.1875T>C (p.Val625=)
NM_000264.5(PTCH1):c.1896C>A (p.Asp632Glu) rs2118057608
NM_000264.5(PTCH1):c.1903G>A (p.Asp635Asn) rs372555269
NM_000264.5(PTCH1):c.1908T>C (p.Asn636=) rs538643667
NM_000264.5(PTCH1):c.1932C>A (p.Pro644=)
NM_000264.5(PTCH1):c.1932C>G (p.Pro644=) rs1314908873
NM_000264.5(PTCH1):c.1944C>T (p.His648=)
NM_000264.5(PTCH1):c.1962G>A (p.Thr654=) rs201544613
NM_000264.5(PTCH1):c.1962G>T (p.Thr654=) rs201544613
NM_000264.5(PTCH1):c.1971C>T (p.Thr657=)
NM_000264.5(PTCH1):c.1977G>A (p.Gln659=) rs1588575126
NM_000264.5(PTCH1):c.2001G>A (p.Glu667=) rs1840303330
NM_000264.5(PTCH1):c.2007C>T (p.Asp669=)
NM_000264.5(PTCH1):c.2031C>A (p.Thr677=)
NM_000264.5(PTCH1):c.2031C>T (p.Thr677=) rs2118044176
NM_000264.5(PTCH1):c.2046C>T (p.Arg682=)
NM_000264.5(PTCH1):c.2049C>G (p.Ser683=) rs756242911
NM_000264.5(PTCH1):c.2061G>T (p.Val687=) rs1588574610
NM_000264.5(PTCH1):c.2070C>T (p.Val690=)
NM_000264.5(PTCH1):c.2088C>A (p.Thr696=)
NM_000264.5(PTCH1):c.2088C>G (p.Thr696=)
NM_000264.5(PTCH1):c.2088C>T (p.Thr696=)
NM_000264.5(PTCH1):c.2094C>T (p.Ser698=)
NM_000264.5(PTCH1):c.2115C>A (p.Thr705=)
NM_000264.5(PTCH1):c.2115C>T (p.Thr705=)
NM_000264.5(PTCH1):c.2121C>T (p.Ser707=) rs1588574313
NM_000264.5(PTCH1):c.2127G>A (p.Arg709=)
NM_000264.5(PTCH1):c.2136C>T (p.Leu712=)
NM_000264.5(PTCH1):c.2139C>G (p.Ser713=) rs143630307
NM_000264.5(PTCH1):c.2160C>T (p.Leu720=)
NM_000264.5(PTCH1):c.2166C>T (p.Cys722=)
NM_000264.5(PTCH1):c.2169C>G (p.Leu723=)
NM_000264.5(PTCH1):c.2175C>A (p.Pro725=)
NM_000264.5(PTCH1):c.2178C>T (p.Pro726=)
NM_000264.5(PTCH1):c.2181T>C (p.Cys727=)
NM_000264.5(PTCH1):c.2193A>G (p.Thr731=)
NM_000264.5(PTCH1):c.2196C>A (p.Leu732=)
NM_000264.5(PTCH1):c.2196C>G (p.Leu732=)
NM_000264.5(PTCH1):c.2196C>T (p.Leu732=) rs1355356596
NM_000264.5(PTCH1):c.2215_2216delinsTT (p.His739Phe) rs864622295
NM_000264.5(PTCH1):c.2220T>C (p.Tyr740=)
NM_000264.5(PTCH1):c.2229C>T (p.Phe743=) rs1009657162
NM_000264.5(PTCH1):c.2233T>C (p.Leu745=) rs1840271123
NM_000264.5(PTCH1):c.2256G>A (p.Val752=) rs1060504536
NM_000264.5(PTCH1):c.2271T>C (p.Phe757=) rs1588569604
NM_000264.5(PTCH1):c.2272C>T (p.Leu758=) rs863224346
NM_000264.5(PTCH1):c.2274G>A (p.Leu758=)
NM_000264.5(PTCH1):c.2274G>T (p.Leu758=)
NM_000264.5(PTCH1):c.2277C>A (p.Gly759=)
NM_000264.5(PTCH1):c.2283G>T (p.Leu761=)
NM_000264.5(PTCH1):c.2286G>A (p.Gly762=)
NM_000264.5(PTCH1):c.2286G>C (p.Gly762=) rs2117974113
NM_000264.5(PTCH1):c.2308C>A (p.Arg770=)
NM_000264.5(PTCH1):c.2322G>C (p.Gly774=) rs2117970840
NM_000264.5(PTCH1):c.2325G>C (p.Leu775=) rs765736670
NM_000264.5(PTCH1):c.2334G>T (p.Thr778=)
NM_000264.5(PTCH1):c.2347C>A (p.Arg783=) rs1060502293
NM_000264.5(PTCH1):c.2373T>C (p.Ile791=) rs2117966513
NM_000264.5(PTCH1):c.2376T>C (p.Ala792=) rs878853851
NM_000264.5(PTCH1):c.2382A>G (p.Gln794=) rs2117965810
NM_000264.5(PTCH1):c.2394T>C (p.Phe798=)
NM_000264.5(PTCH1):c.2412T>C (p.Tyr804=)
NM_000264.5(PTCH1):c.2445C>T (p.Ile815=)
NM_000264.5(PTCH1):c.2448G>A (p.Gln816=)
NM_000264.5(PTCH1):c.2451C>T (p.His817=) rs780536108
NM_000264.5(PTCH1):c.2472G>A (p.Arg824=) rs2117955057
NM_000264.5(PTCH1):c.2487G>C (p.Val829=) rs774573762
NM_000264.5(PTCH1):c.2493T>C (p.Tyr831=)
NM_000264.5(PTCH1):c.2500T>C (p.Leu834=)
NM_000264.5(PTCH1):c.2514A>G (p.Lys838=) rs149134846
NM_000264.5(PTCH1):c.2517G>A (p.Gln839=)
NM_000264.5(PTCH1):c.2535G>A (p.Leu845=) rs1226541991
NM_000264.5(PTCH1):c.2541C>T (p.Tyr847=) rs863224347
NM_000264.5(PTCH1):c.2556T>A (p.Leu852=)

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