ClinVar Miner

List of variants in gene TRPS1 reported as likely benign for ectodermal dysplasia syndrome

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_014112.5(TRPS1):c.1788T>C (p.Tyr596=) rs34094363 0.01557
NM_014112.5(TRPS1):c.1195C>T (p.Leu399Phe) rs147432147 0.00163
NM_014112.5(TRPS1):c.355A>T (p.Thr119Ser) rs201373462 0.00117
NM_014112.5(TRPS1):c.*2537del rs570702506 0.00088
NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe) rs148023627 0.00059
NM_014112.5(TRPS1):c.2223G>A (p.Glu741=) rs199732237 0.00056
NM_014112.5(TRPS1):c.1083C>T (p.Thr361=) rs143724802 0.00050
NM_014112.5(TRPS1):c.1171A>C (p.Asn391His) rs368184534 0.00045
NM_014112.5(TRPS1):c.2645A>G (p.Gln882Arg) rs369004633 0.00041
NM_014112.5(TRPS1):c.2701-9_2701-8del rs368655299 0.00038
NM_014112.5(TRPS1):c.3202G>A (p.Val1068Ile) rs200107935 0.00029
NM_014112.5(TRPS1):c.170A>G (p.Glu57Gly) rs201770819 0.00026
NM_014112.5(TRPS1):c.310C>T (p.Pro104Ser) rs200964070 0.00026
NM_014112.5(TRPS1):c.2793C>T (p.Asn931=) rs376942817 0.00024
NM_014112.5(TRPS1):c.1008A>G (p.Thr336=) rs749317963 0.00019
NM_014112.5(TRPS1):c.2441G>T (p.Arg814Leu) rs146506752 0.00016
NM_014112.5(TRPS1):c.515A>G (p.Lys172Arg) rs775998078 0.00014
NM_014112.5(TRPS1):c.89A>C (p.Glu30Ala) rs763955674 0.00014
NM_014112.5(TRPS1):c.422C>T (p.Pro141Leu) rs201699015 0.00013
NM_014112.5(TRPS1):c.1416C>T (p.His472=) rs186297164 0.00011
NM_014112.5(TRPS1):c.2796G>A (p.Ala932=) rs539395441 0.00011
NM_014112.5(TRPS1):c.2988G>A (p.Arg996=) rs202158991 0.00011
NM_014112.5(TRPS1):c.3051C>T (p.Tyr1017=) rs140839419 0.00011
NM_014112.5(TRPS1):c.3224C>G (p.Ser1075Cys) rs190186284 0.00011
NM_014112.5(TRPS1):c.3770A>G (p.Gln1257Arg) rs201029096 0.00009
NM_014112.5(TRPS1):c.2470C>T (p.Leu824=) rs201981301 0.00007
NM_014112.5(TRPS1):c.342G>A (p.Pro114=) rs200131404 0.00006
NM_014112.5(TRPS1):c.1849C>T (p.Pro617Ser) rs369619683 0.00005
NM_014112.5(TRPS1):c.2487T>A (p.Pro829=) rs202162026 0.00005
NM_014112.5(TRPS1):c.3399C>T (p.Ser1133=) rs369411533 0.00004
NM_014112.5(TRPS1):c.1541G>T (p.Ser514Ile) rs558232936 0.00003
NM_014112.5(TRPS1):c.1743C>G (p.Pro581=) rs886043582 0.00003
NM_014112.5(TRPS1):c.1843T>C (p.Leu615=) rs372922863 0.00003
NM_014112.5(TRPS1):c.2465C>G (p.Ala822Gly) rs777464547 0.00003
NM_014112.5(TRPS1):c.3148A>T (p.Ile1050Phe) rs181035264 0.00003
NM_014112.5(TRPS1):c.3477C>T (p.Thr1159=) rs565639429 0.00003
NM_014112.5(TRPS1):c.565G>A (p.Gly189Ser) rs780885595 0.00003
NM_014112.5(TRPS1):c.1892A>G (p.Gln631Arg) rs759189183 0.00002
NM_014112.5(TRPS1):c.217C>T (p.His73Tyr) rs572735161 0.00002
NM_014112.5(TRPS1):c.2240C>A (p.Ser747Tyr) rs867076249 0.00002
NM_014112.5(TRPS1):c.270C>T (p.Ser90=) rs76812525 0.00002
NM_014112.5(TRPS1):c.343C>T (p.His115Tyr) rs748128322 0.00002
NM_014112.5(TRPS1):c.-470T>C rs567007790 0.00001
NM_014112.5(TRPS1):c.1239G>A (p.Lys413=) rs568714002 0.00001
NM_014112.5(TRPS1):c.1572C>T (p.Ser524=) rs765625635 0.00001
NM_014112.5(TRPS1):c.1644C>T (p.Ser548=) rs1237070966 0.00001
NM_014112.5(TRPS1):c.1875C>T (p.Val625=) rs752692840 0.00001
NM_014112.5(TRPS1):c.2637C>T (p.Leu879=) rs559046751 0.00001
NM_014112.5(TRPS1):c.2706T>C (p.Arg902=) rs754260940 0.00001
NM_014112.5(TRPS1):c.3105C>T (p.Val1035=) rs753629655 0.00001
NM_014112.5(TRPS1):c.3337G>A (p.Val1113Ile) rs368980249 0.00001
NM_014112.5(TRPS1):c.3594G>A (p.Thr1198=) rs185725906 0.00001
NM_014112.5(TRPS1):c.846C>T (p.Asn282=) rs369477249 0.00001
NM_014112.5(TRPS1):c.88G>A (p.Glu30Lys) rs371442998 0.00001
NM_014112.5(TRPS1):c.*5300_*5303del rs564851438
NM_014112.5(TRPS1):c.1014T>C (p.Asp338=)
NM_014112.5(TRPS1):c.1041C>T (p.Arg347=)
NM_014112.5(TRPS1):c.105G>A (p.Glu35=)
NM_014112.5(TRPS1):c.1074C>T (p.Asn358=)
NM_014112.5(TRPS1):c.1083C>A (p.Thr361=)
NM_014112.5(TRPS1):c.1092A>G (p.Glu364=)
NM_014112.5(TRPS1):c.1113C>T (p.His371=) rs2130494267
NM_014112.5(TRPS1):c.1130C>T (p.Ala377Val)
NM_014112.5(TRPS1):c.1154C>G (p.Ala385Gly)
NM_014112.5(TRPS1):c.1179C>T (p.Asn393=)
NM_014112.5(TRPS1):c.1233G>A (p.Gln411=)
NM_014112.5(TRPS1):c.1266T>C (p.Thr422=)
NM_014112.5(TRPS1):c.1395A>G (p.Leu465=) rs1315134646
NM_014112.5(TRPS1):c.1434C>T (p.Gly478=)
NM_014112.5(TRPS1):c.1467C>T (p.Ser489=)
NM_014112.5(TRPS1):c.1475C>T (p.Ser492Phe)
NM_014112.5(TRPS1):c.152C>T (p.Ser51Phe)
NM_014112.5(TRPS1):c.153T>C (p.Ser51=)
NM_014112.5(TRPS1):c.1545G>A (p.Ser515=)
NM_014112.5(TRPS1):c.1545G>T (p.Ser515=)
NM_014112.5(TRPS1):c.1584C>T (p.Ala528=)
NM_014112.5(TRPS1):c.1585G>A (p.Glu529Lys)
NM_014112.5(TRPS1):c.1650C>A (p.Gly550=)
NM_014112.5(TRPS1):c.176C>T (p.Thr59Met)
NM_014112.5(TRPS1):c.177G>A (p.Thr59=)
NM_014112.5(TRPS1):c.1782T>C (p.Ile594=)
NM_014112.5(TRPS1):c.1784C>T (p.Thr595Ile)
NM_014112.5(TRPS1):c.1791G>A (p.Pro597=)
NM_014112.5(TRPS1):c.1869G>A (p.Ser623=) rs751550383
NM_014112.5(TRPS1):c.1869G>T (p.Ser623=) rs751550383
NM_014112.5(TRPS1):c.1929C>G (p.Leu643=)
NM_014112.5(TRPS1):c.1947G>T (p.Val649=)
NM_014112.5(TRPS1):c.1964C>T (p.Ser655Leu)
NM_014112.5(TRPS1):c.1974A>G (p.Lys658=)
NM_014112.5(TRPS1):c.1992G>A (p.Leu664=)
NM_014112.5(TRPS1):c.2000C>T (p.Ser667Leu)
NM_014112.5(TRPS1):c.2001G>A (p.Ser667=) rs766238512
NM_014112.5(TRPS1):c.2026A>C (p.Ser676Arg)
NM_014112.5(TRPS1):c.2044A>G (p.Thr682Ala)
NM_014112.5(TRPS1):c.2087G>A (p.Arg696Gln)
NM_014112.5(TRPS1):c.2096+10G>T
NM_014112.5(TRPS1):c.2096+11G>C rs754841326
NM_014112.5(TRPS1):c.2097-12C>T
NM_014112.5(TRPS1):c.2097-14T>C
NM_014112.5(TRPS1):c.2145C>T (p.Ala715=)
NM_014112.5(TRPS1):c.2310A>G (p.Gly770=)
NM_014112.5(TRPS1):c.238C>T (p.Pro80Ser)
NM_014112.5(TRPS1):c.2437C>T (p.Leu813=)
NM_014112.5(TRPS1):c.2442G>A (p.Arg814=)
NM_014112.5(TRPS1):c.2451G>A (p.Pro817=)
NM_014112.5(TRPS1):c.2514G>A (p.Lys838=)
NM_014112.5(TRPS1):c.2523G>A (p.Arg841=)
NM_014112.5(TRPS1):c.2524G>A (p.Asp842Asn)
NM_014112.5(TRPS1):c.2534A>G (p.Asn845Ser)
NM_014112.5(TRPS1):c.2559A>C (p.Arg853=)
NM_014112.5(TRPS1):c.2563A>T (p.Ile855Phe)
NM_014112.5(TRPS1):c.2586C>G (p.Thr862=) rs1586430909
NM_014112.5(TRPS1):c.2616C>A (p.Gly872=)
NM_014112.5(TRPS1):c.2634C>T (p.Ala878=)
NM_014112.5(TRPS1):c.2657C>T (p.Ser886Leu)
NM_014112.5(TRPS1):c.2778C>T (p.Gly926=)
NM_014112.5(TRPS1):c.2781A>T (p.Gly927=)
NM_014112.5(TRPS1):c.2823+15C>T rs201296334
NM_014112.5(TRPS1):c.2823+19del rs2129768290
NM_014112.5(TRPS1):c.2824-18T>C
NM_014112.5(TRPS1):c.2824-6C>T
NM_014112.5(TRPS1):c.2849A>G (p.Lys950Arg)
NM_014112.5(TRPS1):c.2895C>A (p.Arg965=)
NM_014112.5(TRPS1):c.2919T>C (p.Ala973=)
NM_014112.5(TRPS1):c.294C>T (p.Gly98=)
NM_014112.5(TRPS1):c.3008A>G (p.Glu1003Gly)
NM_014112.5(TRPS1):c.3067T>C (p.Leu1023=)
NM_014112.5(TRPS1):c.3187G>A (p.Gly1063Arg)
NM_014112.5(TRPS1):c.3201C>T (p.Ser1067=)
NM_014112.5(TRPS1):c.3264G>A (p.Ala1088=)
NM_014112.5(TRPS1):c.3275A>G (p.Asn1092Ser)
NM_014112.5(TRPS1):c.3333C>G (p.Pro1111=)
NM_014112.5(TRPS1):c.3390T>C (p.Tyr1130=)
NM_014112.5(TRPS1):c.3413C>T (p.Pro1138Leu)
NM_014112.5(TRPS1):c.3429C>T (p.His1143=)
NM_014112.5(TRPS1):c.342G>T (p.Pro114=)
NM_014112.5(TRPS1):c.3439C>T (p.Leu1147=)
NM_014112.5(TRPS1):c.3486G>A (p.Leu1162=)
NM_014112.5(TRPS1):c.3513A>G (p.Ser1171=)
NM_014112.5(TRPS1):c.3540G>A (p.Ala1180=) rs764387571
NM_014112.5(TRPS1):c.3540G>C (p.Ala1180=)
NM_014112.5(TRPS1):c.3561G>A (p.Gly1187=) rs2129746732
NM_014112.5(TRPS1):c.3573C>T (p.Asn1191=) rs375082372
NM_014112.5(TRPS1):c.3574G>A (p.Gly1192Ser)
NM_014112.5(TRPS1):c.3579C>G (p.Ala1193=)
NM_014112.5(TRPS1):c.3612A>G (p.Val1204=)
NM_014112.5(TRPS1):c.3621A>G (p.Glu1207=)
NM_014112.5(TRPS1):c.3627C>G (p.Pro1209=)
NM_014112.5(TRPS1):c.3667C>G (p.Gln1223Glu)
NM_014112.5(TRPS1):c.3669A>G (p.Gln1223=)
NM_014112.5(TRPS1):c.3756C>T (p.Asp1252=)
NM_014112.5(TRPS1):c.3798G>A (p.Thr1266=)
NM_014112.5(TRPS1):c.3852A>G (p.Ala1284=)
NM_014112.5(TRPS1):c.391G>T (p.Ala131Ser)
NM_014112.5(TRPS1):c.408G>A (p.Glu136=)
NM_014112.5(TRPS1):c.414G>A (p.Leu138=)
NM_014112.5(TRPS1):c.426A>G (p.Gln142=)
NM_014112.5(TRPS1):c.462C>T (p.Cys154=) rs1419381053
NM_014112.5(TRPS1):c.468C>T (p.Pro156=)
NM_014112.5(TRPS1):c.471A>C (p.Ser157=) rs780661100
NM_014112.5(TRPS1):c.496G>A (p.Asp166Asn)
NM_014112.5(TRPS1):c.525G>A (p.Glu175=) rs2130532256
NM_014112.5(TRPS1):c.570G>A (p.Leu190=)
NM_014112.5(TRPS1):c.603A>G (p.Gln201=) rs756604086
NM_014112.5(TRPS1):c.675G>C (p.Pro225=) rs757893991
NM_014112.5(TRPS1):c.72C>T (p.Asn24=)
NM_014112.5(TRPS1):c.735C>T (p.Tyr245=)
NM_014112.5(TRPS1):c.73G>A (p.Val25Ile)
NM_014112.5(TRPS1):c.900T>C (p.Phe300=)
NM_014112.5(TRPS1):c.993C>T (p.Gly331=)

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