ClinVar Miner

List of variants in gene PTCHD1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_173495.3(PTCHD1):c.858T>C (p.Cys286=) rs5926304 0.67668
NM_173495.3(PTCHD1):c.93G>A (p.Ala31=) rs12014412 0.03486
NM_173495.3(PTCHD1):c.1013-26G>C rs6653680 0.01308
NM_173495.3(PTCHD1):c.1013-158T>C rs17343407 0.00796
NC_000023.11:g.23334807C>T rs993002621 0.00474
NM_173495.3(PTCHD1):c.657C>T (p.Asn219=) rs144982584 0.00181
NM_173495.3(PTCHD1):c.1311T>C (p.His437=) rs150186077 0.00099
NM_173495.3(PTCHD1):c.1013-12C>G rs200934310 0.00095
NM_173495.3(PTCHD1):c.1013-24T>C rs144843249 0.00067
NM_173495.3(PTCHD1):c.1332C>T (p.Val444=) rs138702144 0.00062
NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=) rs138676073 0.00048
NM_173495.3(PTCHD1):c.1473C>T (p.Tyr491=) rs138439272 0.00046
NM_173495.3(PTCHD1):c.1665G>A (p.Val555=) rs146777271 0.00046
NM_173495.3(PTCHD1):c.1012+5T>C rs201933353 0.00035
NM_173495.3(PTCHD1):c.336C>T (p.Thr112=) rs369975097 0.00032
NM_173495.3(PTCHD1):c.517A>G (p.Ile173Val) rs147324438 0.00027
NM_173495.3(PTCHD1):c.2508T>A (p.Phe836Leu) rs139453757 0.00025
NM_173495.3(PTCHD1):c.1110C>G (p.Asp370Glu) rs369968343 0.00011
NM_173495.3(PTCHD1):c.1767G>A (p.Glu589=) rs139310513 0.00011
NM_173495.3(PTCHD1):c.203A>G (p.Asn68Ser) rs376309663 0.00010
NM_173495.3(PTCHD1):c.*9G>C rs759751069 0.00008
NM_173495.3(PTCHD1):c.310G>A (p.Ala104Thr) rs1336230916 0.00006
NM_173495.3(PTCHD1):c.798C>T (p.Arg266=) rs148630483 0.00006
NM_173495.3(PTCHD1):c.881G>A (p.Arg294His) rs1438077547 0.00006
NM_173495.3(PTCHD1):c.1003G>A (p.Val335Ile) rs727504113 0.00004
NM_173495.3(PTCHD1):c.466G>A (p.Val156Ile) rs199597484 0.00004
NM_173495.3(PTCHD1):c.552G>A (p.Arg184=) rs747348529 0.00004
NM_173495.3(PTCHD1):c.2317T>G (p.Ser773Ala) rs777798588 0.00003
NM_173495.3(PTCHD1):c.2475G>A (p.Arg825=) rs200798672 0.00003
NM_173495.3(PTCHD1):c.1243C>T (p.Leu415Phe) rs1277116747 0.00002
NM_173495.3(PTCHD1):c.18G>A (p.Leu6=) rs756043378 0.00002
NM_173495.3(PTCHD1):c.2041G>A (p.Val681Ile) rs150912089 0.00002
NM_173495.3(PTCHD1):c.2094C>A (p.Ala698=) rs201724920 0.00002
NM_173495.3(PTCHD1):c.2327T>C (p.Val776Ala) rs1922901249 0.00002
NM_173495.3(PTCHD1):c.491G>A (p.Arg164Gln) rs908889815 0.00002
NM_173495.3(PTCHD1):c.714A>T (p.Arg238Ser) rs765424375 0.00002
NM_173495.3(PTCHD1):c.822C>T (p.Thr274=) rs794727312 0.00002
NM_173495.3(PTCHD1):c.836T>C (p.Val279Ala) rs969176888 0.00002
NM_173495.3(PTCHD1):c.117C>G (p.Leu39=) rs774288630 0.00001
NM_173495.3(PTCHD1):c.1300A>G (p.Asn434Asp) rs1196724620 0.00001
NM_173495.3(PTCHD1):c.1416C>T (p.Gly472=) rs752690653 0.00001
NM_173495.3(PTCHD1):c.1751G>A (p.Arg584Gln) rs1420215253 0.00001
NM_173495.3(PTCHD1):c.2535A>G (p.Ile845Met) rs1310794737 0.00001
NM_173495.3(PTCHD1):c.656A>G (p.Asn219Ser) rs794727313 0.00001
NM_173495.3(PTCHD1):c.808C>T (p.Arg270Cys) rs745672569 0.00001
NM_173495.3(PTCHD1):c.817G>T (p.Val273Phe) rs762133513 0.00001
NM_173495.3(PTCHD1):c.956A>G (p.Asn319Ser) rs773352412 0.00001
GRCh37/hg19 Xp22.11(chrX:23164537-23400286)x1
GRCh37/hg19 Xp22.11(chrX:23195843-23457401)x0
GRCh37/hg19 Xp22.11(chrX:23265411-23414872)x3
GRCh37/hg19 Xp22.11(chrX:23351116-23530035)x3
GRCh37/hg19 Xp22.11(chrX:23352993-23412302)x0
GRCh37/hg19 Xp22.11(chrX:23358556-23569512)x2
NC_000023.11:g.23334788GCC[10] rs879170954
NC_000023.11:g.23334788GCC[12] rs879170954
NM_173495.3(PTCHD1):c.*225AC[22] rs34539351
NM_173495.3(PTCHD1):c.*225AC[23] rs34539351
NM_173495.3(PTCHD1):c.*225AC[24] rs34539351
NM_173495.3(PTCHD1):c.*225AC[26] rs34539351
NM_173495.3(PTCHD1):c.*225AC[27] rs34539351
NM_173495.3(PTCHD1):c.*225AC[28] rs34539351
NM_173495.3(PTCHD1):c.1012+269T>G rs5971112
NM_173495.3(PTCHD1):c.1013-2A>G rs1555912666
NM_173495.3(PTCHD1):c.1023A>T (p.Leu341Phe) rs1057524481
NM_173495.3(PTCHD1):c.1024T>C (p.Tyr342His)
NM_173495.3(PTCHD1):c.1031C>T (p.Thr344Ile) rs1569142959
NM_173495.3(PTCHD1):c.105C>G (p.Ile35Met)
NM_173495.3(PTCHD1):c.1136C>G (p.Thr379Ser)
NM_173495.3(PTCHD1):c.1142T>C (p.Met381Thr)
NM_173495.3(PTCHD1):c.116T>A (p.Leu39His)
NM_173495.3(PTCHD1):c.1175C>T (p.Pro392Leu)
NM_173495.3(PTCHD1):c.1186A>C (p.Ile396Leu) rs2146651912
NM_173495.3(PTCHD1):c.1199G>C (p.Arg400Thr)
NM_173495.3(PTCHD1):c.1230C>A (p.Ile410=) rs483352769
NM_173495.3(PTCHD1):c.1235T>A (p.Phe412Tyr)
NM_173495.3(PTCHD1):c.1290C>A (p.Tyr430Ter) rs1922871430
NM_173495.3(PTCHD1):c.1412A>C (p.Glu471Ala)
NM_173495.3(PTCHD1):c.1433dup (p.Tyr478Ter) rs1555912699
NM_173495.3(PTCHD1):c.145G>T (p.Glu49Ter)
NM_173495.3(PTCHD1):c.1469A>G (p.Tyr490Cys) rs143705767
NM_173495.3(PTCHD1):c.1496A>G (p.Tyr499Cys)
NM_173495.3(PTCHD1):c.1547T>A (p.Leu516Ter) rs886041610
NM_173495.3(PTCHD1):c.1575dup (p.Ser526fs) rs1601918200
NM_173495.3(PTCHD1):c.1582C>T (p.Leu528Phe) rs992351585
NM_173495.3(PTCHD1):c.1636C>G (p.Gln546Glu)
NM_173495.3(PTCHD1):c.1658G>A (p.Ser553Asn)
NM_173495.3(PTCHD1):c.1667T>C (p.Ile556Thr)
NM_173495.3(PTCHD1):c.167T>G (p.Leu56Arg)
NM_173495.3(PTCHD1):c.1682A>G (p.Tyr561Cys)
NM_173495.3(PTCHD1):c.1691T>C (p.Ile564Thr)
NM_173495.3(PTCHD1):c.170C>A (p.Ala57Glu)
NM_173495.3(PTCHD1):c.1765G>A (p.Glu589Lys)
NM_173495.3(PTCHD1):c.1786C>T (p.Arg596Trp)
NM_173495.3(PTCHD1):c.1794_1806del (p.Asn599fs) rs1922885735
NM_173495.3(PTCHD1):c.1796A>G (p.Asn599Ser)
NM_173495.3(PTCHD1):c.179A>G (p.His60Arg)
NM_173495.3(PTCHD1):c.1804A>G (p.Thr602Ala) rs1922886192
NM_173495.3(PTCHD1):c.1878del (p.Gln627fs) rs1555912737
NM_173495.3(PTCHD1):c.1915G>A (p.Glu639Lys)
NM_173495.3(PTCHD1):c.1928T>C (p.Val643Ala)
NM_173495.3(PTCHD1):c.1938A>T (p.Arg646Ser)
NM_173495.3(PTCHD1):c.1941G>A (p.Met647Ile)
NM_173495.3(PTCHD1):c.1946T>G (p.Leu649Trp)
NM_173495.3(PTCHD1):c.194T>C (p.Ile65Thr)
NM_173495.3(PTCHD1):c.1951G>A (p.Ala651Thr)
NM_173495.3(PTCHD1):c.1957A>G (p.Thr653Ala)
NM_173495.3(PTCHD1):c.1958C>G (p.Thr653Ser)
NM_173495.3(PTCHD1):c.195C>G (p.Ile65Met)
NM_173495.3(PTCHD1):c.1969_1972del (p.Asn657fs) rs1057517808
NM_173495.3(PTCHD1):c.1988A>T (p.Asp663Val)
NM_173495.3(PTCHD1):c.2042T>A (p.Val681Asp)
NM_173495.3(PTCHD1):c.2048A>G (p.Asn683Ser) rs2146652710
NM_173495.3(PTCHD1):c.20A>T (p.His7Leu)
NM_173495.3(PTCHD1):c.2101C>T (p.His701Tyr)
NM_173495.3(PTCHD1):c.2132TCT[2] (p.Phe713del)
NM_173495.3(PTCHD1):c.2141C>T (p.Ser714Leu)
NM_173495.3(PTCHD1):c.2155G>A (p.Ala719Thr)
NM_173495.3(PTCHD1):c.217C>A (p.Leu73Ile) rs373105249
NM_173495.3(PTCHD1):c.2201T>A (p.Val734Glu)
NM_173495.3(PTCHD1):c.2217A>G (p.Ile739Met)
NM_173495.3(PTCHD1):c.2231T>C (p.Leu744Ser) rs2146652865
NM_173495.3(PTCHD1):c.2266T>C (p.Cys756Arg)
NM_173495.3(PTCHD1):c.2284A>T (p.Asn762Tyr)
NM_173495.3(PTCHD1):c.2293A>G (p.Ile765Val)
NM_173495.3(PTCHD1):c.2309C>T (p.Pro770Leu) rs2146652955
NM_173495.3(PTCHD1):c.2312T>G (p.Met771Arg)
NM_173495.3(PTCHD1):c.2313G>T (p.Met771Ile) rs1165623374
NM_173495.3(PTCHD1):c.2353A>G (p.Lys785Glu)
NM_173495.3(PTCHD1):c.2401_2402del (p.Ser801fs)
NM_173495.3(PTCHD1):c.2422G>A (p.Gly808Ser)
NM_173495.3(PTCHD1):c.2453A>G (p.Asn818Ser)
NM_173495.3(PTCHD1):c.2462G>A (p.Cys821Tyr)
NM_173495.3(PTCHD1):c.2489T>A (p.Ile830Lys)
NM_173495.3(PTCHD1):c.2519C>G (p.Ala840Gly) rs2146653128
NM_173495.3(PTCHD1):c.251A>G (p.Tyr84Cys)
NM_173495.3(PTCHD1):c.2525dup (p.Leu842fs) rs1922905471
NM_173495.3(PTCHD1):c.253T>A (p.Ser85Thr)
NM_173495.3(PTCHD1):c.2582dup (p.Asn861fs)
NM_173495.3(PTCHD1):c.2591A>T (p.Asn864Ile) rs2146653168
NM_173495.3(PTCHD1):c.2593C>A (p.Arg865=)
NM_173495.3(PTCHD1):c.2644G>T (p.Val882Phe) rs766746710
NM_173495.3(PTCHD1):c.2T>C (p.Met1Thr) rs1064796945
NM_173495.3(PTCHD1):c.316A>T (p.Met106Leu)
NM_173495.3(PTCHD1):c.352-297C>T rs5925763
NM_173495.3(PTCHD1):c.404C>T (p.Thr135Met)
NM_173495.3(PTCHD1):c.434A>G (p.Asp145Gly)
NM_173495.3(PTCHD1):c.456C>T (p.Asp152=)
NM_173495.3(PTCHD1):c.458T>C (p.Ile153Thr)
NM_173495.3(PTCHD1):c.468C>T (p.Val156=)
NM_173495.3(PTCHD1):c.49C>G (p.Leu17Val)
NM_173495.3(PTCHD1):c.543G>C (p.Lys181Asn)
NM_173495.3(PTCHD1):c.546C>T (p.Asp182=)
NM_173495.3(PTCHD1):c.55C>A (p.His19Asn)
NM_173495.3(PTCHD1):c.575T>C (p.Leu192Pro)
NM_173495.3(PTCHD1):c.590_591del (p.Val197fs) rs1601914175
NM_173495.3(PTCHD1):c.592C>T (p.His198Tyr) rs1655451720
NM_173495.3(PTCHD1):c.604C>T (p.Arg202Trp)
NM_173495.3(PTCHD1):c.708T>C (p.Thr236=)
NM_173495.3(PTCHD1):c.71A>C (p.His24Pro) rs2146604111
NM_173495.3(PTCHD1):c.76G>A (p.Val26Ile)
NM_173495.3(PTCHD1):c.801A>C (p.Val267=)
NM_173495.3(PTCHD1):c.853C>G (p.Leu285Val) rs2146642061
NM_173495.3(PTCHD1):c.855G>A (p.Leu285=)
NM_173495.3(PTCHD1):c.863C>G (p.Ser288Cys)
Single allele

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