ClinVar Miner

List of variants in gene PROM1 studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 154
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HGVS dbSNP gnomAD frequency
NM_006017.3(PROM1):c.*1078A>G rs3130 0.53265
NM_006017.3(PROM1):c.303+6G>A rs2078622 0.39397
NM_006017.3(PROM1):c.2374-6T>C rs6449209 0.34571
NM_006017.3(PROM1):c.2582+43C>T rs11725522 0.22440
NM_006017.3(PROM1):c.*667A>C rs2240688 0.21643
NM_006017.3(PROM1):c.2281-6C>G rs3815344 0.20394
NM_006017.3(PROM1):c.1003-35A>C rs2286458 0.09908
NM_006017.3(PROM1):c.786G>A (p.Ala262=) rs2286455 0.09727
NM_006017.3(PROM1):c.129C>T (p.Thr43=) rs10033086 0.09038
NM_006017.3(PROM1):c.15C>T (p.Leu5=) rs10033189 0.06194
NM_006017.3(PROM1):c.1983+14G>A rs4698436 0.04259
NM_006017.3(PROM1):c.228G>A (p.Leu76=) rs76963591 0.03578
NM_006017.3(PROM1):c.1768-5C>T rs55708318 0.03551
NM_006017.3(PROM1):c.631-14T>C rs16892824 0.01810
NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) rs189108830 0.00928
NM_006017.3(PROM1):c.1751A>G (p.His584Arg) rs140027620 0.00608
NM_006017.3(PROM1):c.1911+14G>A rs79077926 0.00565
NM_006017.3(PROM1):c.1683-3C>T rs143470288 0.00518
NM_006017.3(PROM1):c.*684C>T rs140362696 0.00496
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) rs113895168 0.00322
NM_006017.3(PROM1):c.1977C>T (p.Asn659=) rs149028760 0.00222
NM_006017.3(PROM1):c.-25T>A rs149845694 0.00194
NM_006017.3(PROM1):c.1579-6T>C rs181261277 0.00190
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) rs200620291 0.00152
NM_006017.3(PROM1):c.2211+7C>T rs372262346 0.00150
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg) rs182096110 0.00128
NM_006017.3(PROM1):c.714A>G (p.Gly238=) rs201662148 0.00088
NM_006017.3(PROM1):c.*1149A>G rs543722299 0.00083
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe) rs200520976 0.00070
NM_006017.3(PROM1):c.*189A>G rs537324748 0.00068
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) rs62617075 0.00065
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly) rs202029748 0.00058
NM_006017.3(PROM1):c.-168G>A rs180926533 0.00037
NM_006017.3(PROM1):c.2112C>T (p.Arg704=) rs375358457 0.00036
NM_006017.3(PROM1):c.1911+8G>A rs370302107 0.00033
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe) rs202041422 0.00026
NM_006017.3(PROM1):c.1780A>C (p.Ile594Leu) rs200507858 0.00022
NM_006017.3(PROM1):c.2271C>T (p.Ile757=) rs375986111 0.00022
NM_006017.3(PROM1):c.181A>G (p.Ile61Val) rs201701647 0.00021
NM_006017.3(PROM1):c.678G>A (p.Ala226=) rs187116049 0.00020
NM_006017.3(PROM1):c.843C>T (p.His281=) rs374394451 0.00019
NM_006017.3(PROM1):c.1279T>C (p.Leu427=) rs200710798 0.00016
NM_006017.3(PROM1):c.556C>T (p.Arg186Trp) rs369512467 0.00011
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln) rs369815021 0.00011
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn) rs146434364 0.00010
NM_006017.3(PROM1):c.-127A>G rs886059206 0.00009
NM_006017.3(PROM1):c.376G>A (p.Val126Met) rs199556426 0.00009
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp) rs201870277 0.00007
NM_006017.3(PROM1):c.717C>T (p.Gly239=) rs763697898 0.00007
NM_006017.3(PROM1):c.*580T>A rs1250583925 0.00006
NM_006017.3(PROM1):c.277-15C>T rs372599685 0.00006
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser) rs201748228 0.00005
NM_006017.3(PROM1):c.1344C>T (p.Ile448=) rs147174580 0.00005
NM_006017.3(PROM1):c.2582+9A>C rs200033458 0.00005
NM_006017.3(PROM1):c.718G>A (p.Gly240Arg) rs752543587 0.00005
NM_006017.3(PROM1):c.*1052G>A rs577484119 0.00004
NM_006017.3(PROM1):c.*1070A>G rs886059195 0.00004
NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys) rs770268627 0.00004
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro) rs140682455 0.00004
NM_006017.3(PROM1):c.1301+2T>C rs775957498 0.00004
NM_006017.3(PROM1):c.1407G>A (p.Pro469=) rs763710252 0.00004
NM_006017.3(PROM1):c.155T>C (p.Ile52Thr) rs778896066 0.00004
NM_006017.3(PROM1):c.1579-12A>C rs370183490 0.00004
NM_006017.3(PROM1):c.1632G>T (p.Gly544=) rs753308387 0.00004
NM_006017.3(PROM1):c.2364C>T (p.Ile788=) rs551849678 0.00004
NM_006017.3(PROM1):c.1301+10T>A rs192338518 0.00003
NM_006017.3(PROM1):c.1301+11C>A rs189953160 0.00003
NM_006017.3(PROM1):c.1450A>G (p.Met484Val) rs574974703 0.00003
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) rs761911901 0.00003
NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro) rs368515078 0.00003
NM_006017.3(PROM1):c.276+15G>T rs766012920 0.00003
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter) rs374017889 0.00003
NM_006017.3(PROM1):c.1377C>T (p.Gly459=) rs779072238 0.00002
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys) rs536622788 0.00002
NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser) rs372632641 0.00002
NM_006017.3(PROM1):c.2450A>G (p.Lys817Arg) rs1231060253 0.00002
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala) rs747844753 0.00002
NM_006017.3(PROM1):c.792G>A (p.Lys264=) rs776605111 0.00002
NM_006017.3(PROM1):c.*198T>C rs1713762475 0.00001
NM_006017.3(PROM1):c.*681C>G rs947805890 0.00001
NM_006017.3(PROM1):c.*781G>A rs1713636052 0.00001
NM_006017.3(PROM1):c.*963A>G rs886059196 0.00001
NM_006017.3(PROM1):c.*985C>G rs937617123 0.00001
NM_006017.3(PROM1):c.-148G>A rs75531222 0.00001
NM_006017.3(PROM1):c.1002+5G>A rs1196489060 0.00001
NM_006017.3(PROM1):c.1142-1G>A rs752619497 0.00001
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter) rs886037880 0.00001
NM_006017.3(PROM1):c.1387T>C (p.Tyr463His) rs1297490531 0.00001
NM_006017.3(PROM1):c.1578+9G>C rs747638667 0.00001
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=) rs201644238 0.00001
NM_006017.3(PROM1):c.1717C>T (p.Leu573Phe) rs886059201 0.00001
NM_006017.3(PROM1):c.1738A>C (p.Asn580His) rs199674847 0.00001
NM_006017.3(PROM1):c.1984-1G>T rs373680665 0.00001
NM_006017.3(PROM1):c.2077-521A>G rs796051882 0.00001
NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys) rs1302809734 0.00001
NM_006017.3(PROM1):c.2309C>A (p.Pro770His) rs568361529 0.00001
NM_006017.3(PROM1):c.2327A>T (p.Asp776Val) rs1033920857 0.00001
NM_006017.3(PROM1):c.2397A>G (p.Gly799=) rs931618095 0.00001
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile) rs201910962 0.00001
NM_006017.3(PROM1):c.605G>A (p.Arg202Gln) rs200352674 0.00001
NM_006017.3(PROM1):c.677C>T (p.Ala226Val) rs376198840 0.00001
NM_006017.3(PROM1):c.706G>A (p.Val236Met) rs536161084 0.00001
NM_006017.3(PROM1):c.*107G>T rs1024479425
NM_006017.3(PROM1):c.*1143A>C rs544424652
NM_006017.3(PROM1):c.*1160A>G rs886059194
NM_006017.3(PROM1):c.*551A>T rs886059197
NM_006017.3(PROM1):c.*640T>A rs1713667197
NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp) rs1414948996
NM_006017.3(PROM1):c.105A>G (p.Glu35=) rs886059205
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1150_1151del (p.Arg384fs) rs1726238223
NM_006017.3(PROM1):c.1177_1178del (p.Ile393fs) rs746174328
NM_006017.3(PROM1):c.1218C>G (p.Leu406=) rs886059203
NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser) rs886059202
NM_006017.3(PROM1):c.1279T>A (p.Leu427Met) rs200710798
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.139del (p.His47fs) rs747512450
NM_006017.3(PROM1):c.1500del (p.Ile500fs) rs1482618215
NM_006017.3(PROM1):c.1578+1G>A rs1553901823
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp) rs755064227
NM_006017.3(PROM1):c.1682+3A>G rs1326022839
NM_006017.3(PROM1):c.1710C>A (p.Tyr570Ter) rs201644238
NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter) rs137853005
NM_006017.3(PROM1):c.1841del (p.Gly614fs) rs886037612
NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr) rs886059200
NM_006017.3(PROM1):c.1883_1884del (p.Arg628fs)
NM_006017.3(PROM1):c.1954T>G (p.Tyr652Asp) rs768320190
NM_006017.3(PROM1):c.1956T>G (p.Tyr652Ter) rs2149113303
NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly) rs530749007
NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter) rs530749007
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg) rs199727800
NM_006017.3(PROM1):c.2209G>T (p.Glu737Ter) rs2149080351
NM_006017.3(PROM1):c.2211+1G>A rs1719285721
NM_006017.3(PROM1):c.2267G>A (p.Trp756Ter)
NM_006017.3(PROM1):c.2281-20_2281-11del rs886037881
NM_006017.3(PROM1):c.2281-2A>G rs1718768311
NM_006017.3(PROM1):c.2281-5C>G rs777654968
NM_006017.3(PROM1):c.2373+13C>G rs886059199
NM_006017.3(PROM1):c.2414dup (p.Leu805fs) rs1717541693
NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter) rs766357803
NM_006017.3(PROM1):c.2480T>C (p.Val827Ala) rs886059198
NM_006017.3(PROM1):c.2489+8T>C rs1433533825
NM_006017.3(PROM1):c.2508G>A (p.Met836Ile) rs534529507
NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn) rs1734560540
NM_006017.3(PROM1):c.276+2T>C rs2149407830
NM_006017.3(PROM1):c.380G>T (p.Gly127Val) rs1733212554
NM_006017.3(PROM1):c.436C>T (p.Arg146Ter) rs780697796
NM_006017.3(PROM1):c.509+1G>A
NM_006017.3(PROM1):c.622del (p.Thr208fs) rs766246531
NM_006017.3(PROM1):c.630+2T>A rs1578097528
NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter) rs368213921
NM_006017.3(PROM1):c.784+1G>A rs745704627
NM_006017.3(PROM1):c.869del (p.Ser290fs) rs1355802816

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