ClinVar Miner

List of variants in gene combination LOC100507346, PTCH1 reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 233
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.2248A>G (p.Lys750Glu) rs1239869539 0.00002
NM_000264.5(PTCH1):c.1733C>T (p.Ala578Val) rs960630296 0.00001
NM_000264.5(PTCH1):c.1762G>A (p.Val588Ile) rs1472804824 0.00001
NM_000264.5(PTCH1):c.1829T>C (p.Ile610Thr) rs1234183663 0.00001
NM_000264.5(PTCH1):c.1835G>T (p.Cys612Phe) rs777587539 0.00001
NM_000264.5(PTCH1):c.1837T>C (p.Cys613Arg) rs948568790 0.00001
NM_000264.5(PTCH1):c.1892C>T (p.Thr631Ile) rs727504112 0.00001
NM_000264.5(PTCH1):c.1954C>T (p.His652Tyr) rs1035631674 0.00001
NM_000264.5(PTCH1):c.1961C>T (p.Thr654Met) rs746898855 0.00001
NM_000264.5(PTCH1):c.1973T>C (p.Met658Thr) rs1588575145 0.00001
NM_000264.5(PTCH1):c.1988A>G (p.Gln663Arg) rs1840305709 0.00001
NM_000264.5(PTCH1):c.1993C>T (p.Arg665Cys) rs767947110 0.00001
NM_000264.5(PTCH1):c.2086A>G (p.Thr696Ala) rs1588574496 0.00001
NM_000264.5(PTCH1):c.2129A>G (p.Asp710Gly) rs1402724349 0.00001
NM_000264.5(PTCH1):c.2141A>G (p.Gln714Arg) rs1051496812 0.00001
NM_000264.5(PTCH1):c.2219A>G (p.Tyr740Cys) rs1156974460 0.00001
NM_000264.5(PTCH1):c.2328C>A (p.Asp776Glu) rs923429610 0.00001
NM_000264.5(PTCH1):c.2361A>C (p.Glu787Asp) rs1159846014 0.00001
NM_000264.5(PTCH1):c.2558A>G (p.Gln853Arg) rs587778628 0.00001
NM_000264.5(PTCH1):c.1729G>A (p.Ala577Thr) rs1554695631
NM_000264.5(PTCH1):c.1737AGT[1] (p.Val582del) rs1588578556
NM_000264.5(PTCH1):c.1738G>A (p.Val580Ile) rs1840408569
NM_000264.5(PTCH1):c.1741G>C (p.Val581Leu)
NM_000264.5(PTCH1):c.1744G>A (p.Val582Met)
NM_000264.5(PTCH1):c.1756G>A (p.Ala586Thr) rs1699771172
NM_000264.5(PTCH1):c.1759A>G (p.Met587Val) rs1840405779
NM_000264.5(PTCH1):c.1760T>C (p.Met587Thr) rs1588578473
NM_000264.5(PTCH1):c.1761G>T (p.Met587Ile)
NM_000264.5(PTCH1):c.1768C>T (p.Leu590Phe) rs2118095021
NM_000264.5(PTCH1):c.1772T>C (p.Ile591Thr)
NM_000264.5(PTCH1):c.1772T>G (p.Ile591Ser) rs2118094624
NM_000264.5(PTCH1):c.1780G>T (p.Ala594Ser) rs2118093961
NM_000264.5(PTCH1):c.1781C>T (p.Ala594Val)
NM_000264.5(PTCH1):c.1795G>A (p.Asp599Asn)
NM_000264.5(PTCH1):c.1802A>G (p.Tyr601Cys) rs2118092432
NM_000264.5(PTCH1):c.1811A>G (p.Glu604Gly) rs756951491
NM_000264.5(PTCH1):c.1813G>C (p.Asp605His)
NM_000264.5(PTCH1):c.1822C>G (p.Leu608Val) rs1840400624
NM_000264.5(PTCH1):c.1828A>G (p.Ile610Val) rs1588578266
NM_000264.5(PTCH1):c.1840T>C (p.Phe614Leu) rs1193948667
NM_000264.5(PTCH1):c.1846A>G (p.Ser616Gly) rs1131690983
NM_000264.5(PTCH1):c.1847+4C>T rs2118088023
NM_000264.5(PTCH1):c.1847+5A>G rs1286074829
NM_000264.5(PTCH1):c.1847+6T>C rs2118087853
NM_000264.5(PTCH1):c.1847G>A (p.Ser616Asn)
NM_000264.5(PTCH1):c.1848C>A (p.Ser616Arg)
NM_000264.5(PTCH1):c.1852T>C (p.Cys618Arg) rs2118062260
NM_000264.5(PTCH1):c.1864G>A (p.Val622Met) rs765258547
NM_000264.5(PTCH1):c.1865T>A (p.Val622Glu)
NM_000264.5(PTCH1):c.1871A>G (p.Gln624Arg) rs1840322792
NM_000264.5(PTCH1):c.1874T>A (p.Val625Asp) rs1175793715
NM_000264.5(PTCH1):c.1883A>C (p.Gln628Pro)
NM_000264.5(PTCH1):c.1889A>C (p.Tyr630Ser) rs1840320961
NM_000264.5(PTCH1):c.1892C>A (p.Thr631Asn)
NM_000264.5(PTCH1):c.1895A>G (p.Asp632Gly)
NM_000264.5(PTCH1):c.1896C>A (p.Asp632Glu) rs2118057608
NM_000264.5(PTCH1):c.1897A>G (p.Thr633Ala) rs1840319889
NM_000264.5(PTCH1):c.1900C>A (p.His634Asn) rs764218645
NM_000264.5(PTCH1):c.1902C>G (p.His634Gln) rs761015917
NM_000264.5(PTCH1):c.1903G>C (p.Asp635His)
NM_000264.5(PTCH1):c.1904A>C (p.Asp635Ala) rs200321717
NM_000264.5(PTCH1):c.1904A>T (p.Asp635Val) rs200321717
NM_000264.5(PTCH1):c.1906A>T (p.Asn636Tyr)
NM_000264.5(PTCH1):c.1907A>G (p.Asn636Ser) rs1588575591
NM_000264.5(PTCH1):c.1910C>A (p.Thr637Asn)
NM_000264.5(PTCH1):c.1916A>G (p.Tyr639Cys)
NM_000264.5(PTCH1):c.1918A>G (p.Ser640Gly) rs1840315398
NM_000264.5(PTCH1):c.1924C>T (p.Pro642Ser)
NM_000264.5(PTCH1):c.1925C>G (p.Pro642Arg) rs762371629
NM_000264.5(PTCH1):c.1928C>G (p.Pro643Arg)
NM_000264.5(PTCH1):c.1930C>A (p.Pro644Thr) rs1840312910
NM_000264.5(PTCH1):c.1936A>G (p.Ser646Gly) rs1588575341
NM_000264.5(PTCH1):c.1939A>T (p.Ser647Cys) rs2118052357
NM_000264.5(PTCH1):c.1941C>A (p.Ser647Arg) rs2118052149
NM_000264.5(PTCH1):c.1942C>T (p.His648Tyr)
NM_000264.5(PTCH1):c.1943A>G (p.His648Arg)
NM_000264.5(PTCH1):c.1946G>T (p.Ser649Ile) rs2118051663
NM_000264.5(PTCH1):c.1958A>T (p.Glu653Val) rs1554695145
NM_000264.5(PTCH1):c.1965G>T (p.Gln655His) rs2118049998
NM_000264.5(PTCH1):c.1969A>T (p.Thr657Ser) rs1564033929
NM_000264.5(PTCH1):c.1978T>A (p.Ser660Thr) rs2118048874
NM_000264.5(PTCH1):c.1981A>C (p.Thr661Pro)
NM_000264.5(PTCH1):c.1984G>A (p.Val662Ile) rs1332668908
NM_000264.5(PTCH1):c.1990C>G (p.Leu664Val) rs1564033840
NM_000264.5(PTCH1):c.1994G>T (p.Arg665Leu)
NM_000264.5(PTCH1):c.2000A>C (p.Glu667Ala) rs2118046932
NM_000264.5(PTCH1):c.2000A>T (p.Glu667Val)
NM_000264.5(PTCH1):c.2002T>A (p.Tyr668Asn) rs1564033766
NM_000264.5(PTCH1):c.2003_2004delinsTA (p.Tyr668Leu)
NM_000264.5(PTCH1):c.2007C>A (p.Asp669Glu)
NM_000264.5(PTCH1):c.2007C>G (p.Asp669Glu)
NM_000264.5(PTCH1):c.2009C>T (p.Pro670Leu) rs2118046186
NM_000264.5(PTCH1):c.2011C>G (p.His671Asp) rs376678753
NM_000264.5(PTCH1):c.2017C>A (p.His673Asn)
NM_000264.5(PTCH1):c.2020G>C (p.Val674Leu)
NM_000264.5(PTCH1):c.2023T>C (p.Tyr675His) rs2118044840
NM_000264.5(PTCH1):c.2024A>G (p.Tyr675Cys)
NM_000264.5(PTCH1):c.2032A>G (p.Thr678Ala)
NM_000264.5(PTCH1):c.2036C>T (p.Ala679Val)
NM_000264.5(PTCH1):c.2042C>G (p.Pro681Arg) rs1588574709
NM_000264.5(PTCH1):c.2042C>T (p.Pro681Leu)
NM_000264.5(PTCH1):c.2044C>G (p.Arg682Gly) rs570441437
NM_000264.5(PTCH1):c.2050G>C (p.Glu684Gln)
NM_000264.5(PTCH1):c.2057C>G (p.Ser686Cys) rs1373585633
NM_000264.5(PTCH1):c.2059G>C (p.Val687Leu)
NM_000264.5(PTCH1):c.2059G>T (p.Val687Leu)
NM_000264.5(PTCH1):c.2068G>C (p.Val690Leu) rs750970743
NM_000264.5(PTCH1):c.2069T>C (p.Val690Ala) rs1840294655
NM_000264.5(PTCH1):c.2072C>T (p.Thr691Ile) rs1840294159
NM_000264.5(PTCH1):c.2078C>T (p.Thr693Ile)
NM_000264.5(PTCH1):c.2080C>G (p.Gln694Glu)
NM_000264.5(PTCH1):c.2083G>A (p.Asp695Asn) rs2118039182
NM_000264.5(PTCH1):c.2085C>A (p.Asp695Glu) rs1452372504
NM_000264.5(PTCH1):c.2086A>C (p.Thr696Pro)
NM_000264.5(PTCH1):c.2086A>T (p.Thr696Ser) rs1588574496
NM_000264.5(PTCH1):c.2090T>C (p.Leu697Pro)
NM_000264.5(PTCH1):c.2090T>G (p.Leu697Arg) rs199892130
NM_000264.5(PTCH1):c.2095T>G (p.Cys699Gly)
NM_000264.5(PTCH1):c.2096G>C (p.Cys699Ser) rs547829353
NM_000264.5(PTCH1):c.2104C>T (p.Pro702Ser) rs2118037487
NM_000264.5(PTCH1):c.2107G>A (p.Glu703Lys) rs2118037130
NM_000264.5(PTCH1):c.2110A>G (p.Ser704Gly) rs1182895378
NM_000264.5(PTCH1):c.2111G>A (p.Ser704Asn)
NM_000264.5(PTCH1):c.2112C>A (p.Ser704Arg)
NM_000264.5(PTCH1):c.2114C>T (p.Thr705Ile)
NM_000264.5(PTCH1):c.2117G>A (p.Ser706Asn) rs140497736
NM_000264.5(PTCH1):c.2120C>G (p.Ser707Cys) rs1840288367
NM_000264.5(PTCH1):c.2122A>C (p.Thr708Pro)
NM_000264.5(PTCH1):c.2122A>G (p.Thr708Ala)
NM_000264.5(PTCH1):c.2126G>A (p.Arg709Lys) rs1840287540
NM_000264.5(PTCH1):c.2126G>C (p.Arg709Thr)
NM_000264.5(PTCH1):c.2134C>G (p.Leu712Val) rs587780696
NM_000264.5(PTCH1):c.2134C>T (p.Leu712Phe) rs587780696
NM_000264.5(PTCH1):c.2137T>G (p.Ser713Ala)
NM_000264.5(PTCH1):c.2138C>G (p.Ser713Cys) rs1554694963
NM_000264.5(PTCH1):c.2146T>C (p.Ser716Pro) rs1564033174
NM_000264.5(PTCH1):c.2153C>A (p.Ser718Tyr) rs2118032855
NM_000264.5(PTCH1):c.2156G>C (p.Ser719Thr) rs1840282022
NM_000264.5(PTCH1):c.2159T>A (p.Leu720His)
NM_000264.5(PTCH1):c.2162A>G (p.His721Arg)
NM_000264.5(PTCH1):c.2168T>G (p.Leu723Arg) rs1554694943
NM_000264.5(PTCH1):c.2170G>C (p.Glu724Gln) rs144501989
NM_000264.5(PTCH1):c.2174C>A (p.Pro725His) rs963297092
NM_000264.5(PTCH1):c.2179T>A (p.Cys727Ser) rs779167673
NM_000264.5(PTCH1):c.2179T>G (p.Cys727Gly) rs779167673
NM_000264.5(PTCH1):c.2180G>A (p.Cys727Tyr)
NM_000264.5(PTCH1):c.2190G>C (p.Trp730Cys) rs1131690992
NM_000264.5(PTCH1):c.2192C>T (p.Thr731Ile) rs2118029007
NM_000264.5(PTCH1):c.2197T>C (p.Ser733Pro) rs2118028468
NM_000264.5(PTCH1):c.2204T>A (p.Phe735Tyr) rs2118027491
NM_000264.5(PTCH1):c.2216A>G (p.His739Arg)
NM_000264.5(PTCH1):c.2225C>G (p.Pro742Arg) rs1185984575
NM_000264.5(PTCH1):c.2225C>T (p.Pro742Leu) rs1185984575
NM_000264.5(PTCH1):c.2227T>C (p.Phe743Leu) rs1840271655
NM_000264.5(PTCH1):c.2230C>G (p.Leu744Val)
NM_000264.5(PTCH1):c.2235G>C (p.Leu745Phe) rs749283740
NM_000264.5(PTCH1):c.2239C>T (p.Pro747Ser)
NM_000264.5(PTCH1):c.2240C>A (p.Pro747Gln) rs1840269986
NM_000264.5(PTCH1):c.2245G>A (p.Ala749Thr)
NM_000264.5(PTCH1):c.2250+4_2250+5dup
NM_000264.5(PTCH1):c.2250+6C>T
NM_000264.5(PTCH1):c.2251-3C>G rs1588569651
NM_000264.5(PTCH1):c.2254G>A (p.Val752Met) rs2117976199
NM_000264.5(PTCH1):c.2257G>A (p.Val753Met) rs1588569635
NM_000264.5(PTCH1):c.2258T>C (p.Val753Ala) rs1840114511
NM_000264.5(PTCH1):c.2260A>G (p.Ile754Val)
NM_000264.5(PTCH1):c.2266C>T (p.Leu756Phe)
NM_000264.5(PTCH1):c.2276G>C (p.Gly759Ala) rs2117974684
NM_000264.5(PTCH1):c.2285G>A (p.Gly762Glu) rs1840110120
NM_000264.5(PTCH1):c.2287G>A (p.Val763Ile) rs544963328
NM_000264.5(PTCH1):c.2288T>C (p.Val763Ala)
NM_000264.5(PTCH1):c.2293C>G (p.Leu765Val)
NM_000264.5(PTCH1):c.2303C>G (p.Thr768Ser) rs878853850
NM_000264.5(PTCH1):c.2308C>G (p.Arg770Gly)
NM_000264.5(PTCH1):c.2312T>C (p.Val771Ala)
NM_000264.5(PTCH1):c.2315G>A (p.Arg772Lys) rs1840106487
NM_000264.5(PTCH1):c.2319C>A (p.Asp773Glu) rs141134542
NM_000264.5(PTCH1):c.2320G>A (p.Gly774Arg) rs2117971100
NM_000264.5(PTCH1):c.2324T>A (p.Leu775Gln)
NM_000264.5(PTCH1):c.2328C>G (p.Asp776Glu) rs923429610
NM_000264.5(PTCH1):c.2332A>G (p.Thr778Ala) rs869025270
NM_000264.5(PTCH1):c.2338A>C (p.Ile780Leu) rs1388496324
NM_000264.5(PTCH1):c.2338A>G (p.Ile780Val) rs1388496324
NM_000264.5(PTCH1):c.2341G>C (p.Val781Leu)
NM_000264.5(PTCH1):c.2342T>C (p.Val781Ala) rs2117968922
NM_000264.5(PTCH1):c.2345C>T (p.Pro782Leu)
NM_000264.5(PTCH1):c.2347C>A (p.Arg783=) rs1060502293
NM_000264.5(PTCH1):c.2347C>G (p.Arg783Gly) rs1060502293
NM_000264.5(PTCH1):c.2347C>T (p.Arg783Trp) rs1060502293
NM_000264.5(PTCH1):c.2348G>T (p.Arg783Leu) rs779296683
NM_000264.5(PTCH1):c.2352A>T (p.Glu784Asp) rs1840099623
NM_000264.5(PTCH1):c.2356A>G (p.Arg786Gly) rs2117967668
NM_000264.5(PTCH1):c.2358A>C (p.Arg786Ser)
NM_000264.5(PTCH1):c.2359G>A (p.Glu787Lys)
NM_000264.5(PTCH1):c.2360A>G (p.Glu787Gly) rs1588569206
NM_000264.5(PTCH1):c.2365G>C (p.Asp789His) rs1840096887
NM_000264.5(PTCH1):c.2370T>A (p.Phe790Leu) rs1060502300
NM_000264.5(PTCH1):c.2377G>A (p.Ala793Thr) rs1554694390
NM_000264.5(PTCH1):c.2377G>C (p.Ala793Pro) rs1554694390
NM_000264.5(PTCH1):c.2383T>C (p.Phe795Leu)
NM_000264.5(PTCH1):c.2400C>A (p.Phe800Leu) rs1840091372
NM_000264.5(PTCH1):c.2402A>G (p.Tyr801Cys)
NM_000264.5(PTCH1):c.2404A>G (p.Asn802Asp)
NM_000264.5(PTCH1):c.2405A>G (p.Asn802Ser) rs1840091155
NM_000264.5(PTCH1):c.2408T>C (p.Met803Thr) rs1554694376
NM_000264.5(PTCH1):c.2413A>G (p.Ile805Val) rs1554694372
NM_000264.5(PTCH1):c.2416G>A (p.Val806Ile) rs2117961342
NM_000264.5(PTCH1):c.2420C>T (p.Thr807Ile) rs1840089871
NM_000264.5(PTCH1):c.2422C>G (p.Gln808Glu) rs1840089681
NM_000264.5(PTCH1):c.2423A>G (p.Gln808Arg)
NM_000264.5(PTCH1):c.2435A>G (p.Tyr812Cys)
NM_000264.5(PTCH1):c.2437C>T (p.Pro813Ser)
NM_000264.5(PTCH1):c.2438C>G (p.Pro813Arg)
NM_000264.5(PTCH1):c.2447A>G (p.Gln816Arg) rs1564030731
NM_000264.5(PTCH1):c.2450A>C (p.His817Pro) rs1564030723
NM_000264.5(PTCH1):c.2456T>C (p.Leu819Pro)
NM_000264.5(PTCH1):c.2470A>G (p.Arg824Gly)
NM_000264.5(PTCH1):c.2471G>A (p.Arg824Lys)
NM_000264.5(PTCH1):c.2477T>C (p.Phe826Ser) rs1174748645
NM_000264.5(PTCH1):c.2478C>G (p.Phe826Leu)
NM_000264.5(PTCH1):c.2488A>C (p.Lys830Gln)
NM_000264.5(PTCH1):c.2492A>G (p.Tyr831Cys) rs2117951860
NM_000264.5(PTCH1):c.2498T>C (p.Met833Thr) rs1060502269
NM_000264.5(PTCH1):c.2499G>A (p.Met833Ile) rs1840081126
NM_000264.5(PTCH1):c.2511C>A (p.Asn837Lys) rs1588568559
NM_000264.5(PTCH1):c.2511C>G (p.Asn837Lys)
NM_000264.5(PTCH1):c.2513A>T (p.Lys838Ile)
NM_000264.5(PTCH1):c.2518C>T (p.Leu840Phe)
NM_000264.5(PTCH1):c.2521C>A (p.Pro841Thr)
NM_000264.5(PTCH1):c.2527A>T (p.Met843Leu)
NM_000264.5(PTCH1):c.2548G>C (p.Asp850His) rs41313327
NM_000264.5(PTCH1):c.2555T>C (p.Leu852Pro) rs1554694254
NM_000264.5(PTCH1):c.2558A>C (p.Gln853Pro) rs587778628

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