ClinVar Miner

List of variants in gene PROM1 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 264
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.684A>G (p.Thr228=) rs370582316 0.00083
NM_006017.3(PROM1):c.1912A>G (p.Thr638Ala) rs201745632 0.00077
NM_006017.3(PROM1):c.1469G>A (p.Ser490Asn) rs201027172 0.00069
NM_006017.3(PROM1):c.1610A>G (p.Asp537Gly) rs200545555 0.00065
NM_006017.3(PROM1):c.2281-22C>G rs201106960 0.00058
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly) rs202029748 0.00058
NM_006017.3(PROM1):c.914C>T (p.Pro305Leu) rs142245630 0.00048
NM_006017.3(PROM1):c.2212-16T>G rs769587553 0.00045
NM_006017.3(PROM1):c.2253A>G (p.Glu751=) rs368580524 0.00044
NM_006017.3(PROM1):c.1983+17C>T rs371884800 0.00037
NM_006017.3(PROM1):c.2112C>T (p.Arg704=) rs375358457 0.00036
NM_006017.3(PROM1):c.630+19A>G rs371353564 0.00034
NM_006017.3(PROM1):c.1330C>T (p.Leu444=) rs368868012 0.00028
NM_006017.3(PROM1):c.1002+20C>T rs374224088 0.00024
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.456C>G (p.Pro152=) rs377209685 0.00020
NM_006017.3(PROM1):c.277-14G>A rs368853623 0.00017
NM_006017.3(PROM1):c.303+10T>G rs181648802 0.00016
NM_006017.3(PROM1):c.1077+6C>G rs146390632 0.00014
NM_006017.3(PROM1):c.2514-12T>C rs372124362 0.00014
NM_006017.3(PROM1):c.801A>G (p.Lys267=) rs186293194 0.00014
NM_006017.3(PROM1):c.2472G>A (p.Ser824=) rs372746499 0.00012
NM_006017.3(PROM1):c.1194G>A (p.Gln398=) rs370217948 0.00010
NM_006017.3(PROM1):c.1767+18T>C rs375443778 0.00009
NM_006017.3(PROM1):c.2319C>T (p.Thr773=) rs185335345 0.00009
NM_006017.3(PROM1):c.376G>A (p.Val126Met) rs199556426 0.00009
NM_006017.3(PROM1):c.321A>C (p.Ala107=) rs371975235 0.00008
NM_006017.3(PROM1):c.1179C>T (p.Ile393=) rs373804552 0.00007
NM_006017.3(PROM1):c.717C>T (p.Gly239=) rs763697898 0.00007
NM_006017.3(PROM1):c.1683-14G>A rs371857360 0.00006
NM_006017.3(PROM1):c.2085A>G (p.Leu695=) rs773851520 0.00006
NM_006017.3(PROM1):c.277-15C>T rs372599685 0.00006
NM_006017.3(PROM1):c.509+13T>C rs370170367 0.00006
NM_006017.3(PROM1):c.807G>A (p.Ala269=) rs140327426 0.00006
NM_006017.3(PROM1):c.999G>A (p.Arg333=) rs748015445 0.00006
NM_006017.3(PROM1):c.1911+9C>T rs376992367 0.00005
NM_006017.3(PROM1):c.2582+9A>C rs200033458 0.00005
NM_006017.3(PROM1):c.540T>C (p.Asn180=) rs1259492360 0.00005
NM_006017.3(PROM1):c.1011C>T (p.Pro337=) rs944075326 0.00004
NM_006017.3(PROM1):c.1077+17A>T rs748491065 0.00004
NM_006017.3(PROM1):c.1407G>A (p.Pro469=) rs763710252 0.00004
NM_006017.3(PROM1):c.1579-12A>C rs370183490 0.00004
NM_006017.3(PROM1):c.2076+16G>T rs374219790 0.00004
NM_006017.3(PROM1):c.2364C>T (p.Ile788=) rs551849678 0.00004
NM_006017.3(PROM1):c.784+14A>G rs781143726 0.00004
NM_006017.3(PROM1):c.785-18C>T rs375709922 0.00004
NM_006017.3(PROM1):c.177G>C (p.Val59=) rs371957029 0.00003
NM_006017.3(PROM1):c.1926C>T (p.Pro642=) rs765486588 0.00003
NM_006017.3(PROM1):c.2076+12C>T rs200356026 0.00003
NM_006017.3(PROM1):c.2478C>T (p.Asp826=) rs774262417 0.00003
NM_006017.3(PROM1):c.277-5T>A rs1353249383 0.00003
NM_006017.3(PROM1):c.303+15T>G rs754507135 0.00003
NM_006017.3(PROM1):c.785-16G>T rs1393364833 0.00003
NM_006017.3(PROM1):c.808T>C (p.Leu270=) rs368615249 0.00003
NM_006017.3(PROM1):c.1041C>T (p.Asn347=) rs749224229 0.00002
NM_006017.3(PROM1):c.1377C>T (p.Gly459=) rs779072238 0.00002
NM_006017.3(PROM1):c.2131-18T>C rs550565365 0.00002
NM_006017.3(PROM1):c.2199T>C (p.Ser733=) rs898994438 0.00002
NM_006017.3(PROM1):c.276+11A>G rs1277587152 0.00002
NM_006017.3(PROM1):c.630+10A>G rs376682773 0.00002
NM_006017.3(PROM1):c.792G>A (p.Lys264=) rs776605111 0.00002
NM_006017.3(PROM1):c.876C>A (p.Thr292=) rs373899516 0.00002
NM_006017.3(PROM1):c.1003-11T>C rs1469558153 0.00001
NM_006017.3(PROM1):c.1078-16T>C rs751300536 0.00001
NM_006017.3(PROM1):c.1182C>T (p.Asp394=) rs769140245 0.00001
NM_006017.3(PROM1):c.1221A>G (p.Ser407=) rs1382801591 0.00001
NM_006017.3(PROM1):c.1320C>T (p.Val440=) rs765602610 0.00001
NM_006017.3(PROM1):c.1434C>T (p.Thr478=) rs761939598 0.00001
NM_006017.3(PROM1):c.1560G>A (p.Thr520=) rs775841074 0.00001
NM_006017.3(PROM1):c.1578+7A>G rs771473951 0.00001
NM_006017.3(PROM1):c.1578+9G>C rs747638667 0.00001
NM_006017.3(PROM1):c.1593C>T (p.Pro531=) rs1722872127 0.00001
NM_006017.3(PROM1):c.165C>T (p.Leu55=) rs1185502209 0.00001
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=) rs201644238 0.00001
NM_006017.3(PROM1):c.1722C>T (p.His574=) rs769250596 0.00001
NM_006017.3(PROM1):c.1768-16C>T rs1405763627 0.00001
NM_006017.3(PROM1):c.1953A>G (p.Ala651=) rs774705029 0.00001
NM_006017.3(PROM1):c.1983+18G>A rs767494089 0.00001
NM_006017.3(PROM1):c.1984-10C>G rs1720536932 0.00001
NM_006017.3(PROM1):c.1995T>C (p.Asn665=) rs750885395 0.00001
NM_006017.3(PROM1):c.2076+17T>C rs781437553 0.00001
NM_006017.3(PROM1):c.2115A>G (p.Thr705=) rs758987229 0.00001
NM_006017.3(PROM1):c.2130+15T>C rs1217220707 0.00001
NM_006017.3(PROM1):c.2151A>G (p.Leu717=) rs561864815 0.00001
NM_006017.3(PROM1):c.220+7G>A rs768718033 0.00001
NM_006017.3(PROM1):c.2281-10A>G rs775407190 0.00001
NM_006017.3(PROM1):c.2374-10T>G rs1717565502 0.00001
NM_006017.3(PROM1):c.2481G>A (p.Val827=) rs1423192339 0.00001
NM_006017.3(PROM1):c.2484C>T (p.Tyr828=) rs768616945 0.00001
NM_006017.3(PROM1):c.2489+13G>A rs1176549155 0.00001
NM_006017.3(PROM1):c.2489+19A>G rs752012414 0.00001
NM_006017.3(PROM1):c.2489+7A>G rs775630400 0.00001
NM_006017.3(PROM1):c.2489+9G>A rs1405241445 0.00001
NM_006017.3(PROM1):c.2490-18C>T rs1341829152 0.00001
NM_006017.3(PROM1):c.279A>G (p.Pro93=) rs1272122853 0.00001
NM_006017.3(PROM1):c.444G>A (p.Lys148=) rs1190167770 0.00001
NM_006017.3(PROM1):c.585T>C (p.Asp195=) rs1190746994 0.00001
NM_006017.3(PROM1):c.631-17G>A rs760544667 0.00001
NM_006017.3(PROM1):c.677C>T (p.Ala226Val) rs376198840 0.00001
NM_006017.3(PROM1):c.6C>G (p.Ala2=) rs1169051313 0.00001
NM_006017.3(PROM1):c.785-17G>A rs574658646 0.00001
NM_006017.3(PROM1):c.9C>T (p.Leu3=) rs781658379 0.00001
NM_006017.3(PROM1):c.1002+12T>C
NM_006017.3(PROM1):c.1002+13G>C
NM_006017.3(PROM1):c.1005T>G (p.Leu335=)
NM_006017.3(PROM1):c.1044T>C (p.Val348=)
NM_006017.3(PROM1):c.1047T>C (p.Leu349=) rs2149291357
NM_006017.3(PROM1):c.1071C>T (p.Val357=)
NM_006017.3(PROM1):c.1077+8T>G
NM_006017.3(PROM1):c.1078-20T>C
NM_006017.3(PROM1):c.108G>A (p.Leu36=) rs1201865936
NM_006017.3(PROM1):c.1116A>G (p.Gln372=)
NM_006017.3(PROM1):c.111T>A (p.Pro37=) rs2149586204
NM_006017.3(PROM1):c.1134C>T (p.Val378=)
NM_006017.3(PROM1):c.1141+11_1141+12del rs775941560
NM_006017.3(PROM1):c.1142-14A>G
NM_006017.3(PROM1):c.1209G>A (p.Gln403=)
NM_006017.3(PROM1):c.1218C>G (p.Leu406=) rs886059203
NM_006017.3(PROM1):c.1260C>T (p.Ile420=)
NM_006017.3(PROM1):c.1263C>T (p.His421=) rs2149249352
NM_006017.3(PROM1):c.1301+10_1301+11delinsAA rs2149248888
NM_006017.3(PROM1):c.1301+11C>T rs189953160
NM_006017.3(PROM1):c.1302-4C>T rs2149236238
NM_006017.3(PROM1):c.1302-6C>T rs372683691
NM_006017.3(PROM1):c.1315C>T (p.Leu439=)
NM_006017.3(PROM1):c.1333C>T (p.Leu445=)
NM_006017.3(PROM1):c.1341C>T (p.Leu447=)
NM_006017.3(PROM1):c.1344C>A (p.Ile448=) rs147174580
NM_006017.3(PROM1):c.1383C>T (p.Cys461=)
NM_006017.3(PROM1):c.1386C>T (p.Gly462=) rs756075405
NM_006017.3(PROM1):c.1392C>T (p.Asp464=) rs1725562698
NM_006017.3(PROM1):c.1410C>A (p.Thr470=) rs754115347
NM_006017.3(PROM1):c.1422T>C (p.Cys474=)
NM_006017.3(PROM1):c.1440C>T (p.Gly480=)
NM_006017.3(PROM1):c.1454+10T>C
NM_006017.3(PROM1):c.1455-20A>G
NM_006017.3(PROM1):c.1551A>G (p.Glu517=)
NM_006017.3(PROM1):c.1578+13T>C rs2149186734
NM_006017.3(PROM1):c.1578+18C>T
NM_006017.3(PROM1):c.1579-16del rs772922223
NM_006017.3(PROM1):c.1584G>A (p.Leu528=)
NM_006017.3(PROM1):c.1596C>T (p.Tyr532=) rs1560442112
NM_006017.3(PROM1):c.15C>G (p.Leu5=) rs10033189
NM_006017.3(PROM1):c.1638A>G (p.Leu546=)
NM_006017.3(PROM1):c.1682+19T>C
NM_006017.3(PROM1):c.1683-18C>T rs750658460
NM_006017.3(PROM1):c.1683-5C>T
NM_006017.3(PROM1):c.1716T>C (p.Thr572=) rs772552632
NM_006017.3(PROM1):c.1731C>T (p.Asn577=)
NM_006017.3(PROM1):c.1767+14G>A
NM_006017.3(PROM1):c.1767+14G>T
NM_006017.3(PROM1):c.1767+17A>T
NM_006017.3(PROM1):c.1768-4G>A rs766013910
NM_006017.3(PROM1):c.1768-4G>T rs766013910
NM_006017.3(PROM1):c.18C>A (p.Gly6=) rs2149586818
NM_006017.3(PROM1):c.1911+18A>G
NM_006017.3(PROM1):c.1960C>T (p.Leu654=)
NM_006017.3(PROM1):c.1962A>G (p.Leu654=) rs2149113246
NM_006017.3(PROM1):c.1983+14G>C
NM_006017.3(PROM1):c.1984-14T>C rs757998973
NM_006017.3(PROM1):c.1984-20G>C
NM_006017.3(PROM1):c.1984-8T>C
NM_006017.3(PROM1):c.1989A>G (p.Pro663=)
NM_006017.3(PROM1):c.2028T>A (p.Thr676=) rs1441995279
NM_006017.3(PROM1):c.2043C>T (p.His681=) rs753006062
NM_006017.3(PROM1):c.2046G>A (p.Gln682=)
NM_006017.3(PROM1):c.204G>A (p.Pro68=)
NM_006017.3(PROM1):c.2076+11_2076+14del
NM_006017.3(PROM1):c.2076+13G>A
NM_006017.3(PROM1):c.2076+14A>G
NM_006017.3(PROM1):c.2076+7G>A
NM_006017.3(PROM1):c.2077-14_2077-13del
NM_006017.3(PROM1):c.2077-17_2077-15del rs771315260
NM_006017.3(PROM1):c.2077-19A>G rs2149091441
NM_006017.3(PROM1):c.2077-521A>T
NM_006017.3(PROM1):c.2094C>T (p.Ser698=) rs199727800
NM_006017.3(PROM1):c.2130+15dup rs746459881
NM_006017.3(PROM1):c.2131-16_2131-15del rs2149081198
NM_006017.3(PROM1):c.2136A>G (p.Arg712=) rs2149081072
NM_006017.3(PROM1):c.216A>G (p.Pro72=)
NM_006017.3(PROM1):c.220+10G>A rs1369088122
NM_006017.3(PROM1):c.220+19G>A rs1023560480
NM_006017.3(PROM1):c.220+20A>C
NM_006017.3(PROM1):c.221-11T>C
NM_006017.3(PROM1):c.221-16G>A rs1203173727
NM_006017.3(PROM1):c.221-9T>C
NM_006017.3(PROM1):c.2212-4C>G rs2149079096
NM_006017.3(PROM1):c.2238A>T (p.Ile746=) rs2149078764
NM_006017.3(PROM1):c.2280+19A>G rs1719199588
NM_006017.3(PROM1):c.2280+8G>A rs2149078265
NM_006017.3(PROM1):c.2281-16G>A rs763535090
NM_006017.3(PROM1):c.2281-6C>A
NM_006017.3(PROM1):c.2281-6C>T
NM_006017.3(PROM1):c.2281-8C>T rs368862821
NM_006017.3(PROM1):c.22C>T (p.Leu8=)
NM_006017.3(PROM1):c.2301G>A (p.Ser767=)
NM_006017.3(PROM1):c.2325A>G (p.Leu775=)
NM_006017.3(PROM1):c.2374-13T>A rs773542265
NM_006017.3(PROM1):c.2374-19_2374-17del
NM_006017.3(PROM1):c.2374-5C>T
NM_006017.3(PROM1):c.2374-6_2374-5insTC rs1717558920
NM_006017.3(PROM1):c.2374-8T>C
NM_006017.3(PROM1):c.2436G>A (p.Ala812=)
NM_006017.3(PROM1):c.2458C>G (p.Arg820Gly) rs755446696
NM_006017.3(PROM1):c.2489+18C>T
NM_006017.3(PROM1):c.2489+20C>T
NM_006017.3(PROM1):c.2490-11G>A rs1404233284
NM_006017.3(PROM1):c.2490-17T>C
NM_006017.3(PROM1):c.2490-20C>T
NM_006017.3(PROM1):c.2490-7T>C rs1717321830
NM_006017.3(PROM1):c.2513+11T>A
NM_006017.3(PROM1):c.2513+19A>G rs1577792083
NM_006017.3(PROM1):c.2514-4A>G rs1236769724
NM_006017.3(PROM1):c.2582+16G>A
NM_006017.3(PROM1):c.2582+8A>C rs2149032095
NM_006017.3(PROM1):c.25T>C (p.Leu9=)
NM_006017.3(PROM1):c.276+17G>T
NM_006017.3(PROM1):c.277-14G>T rs368853623
NM_006017.3(PROM1):c.277-19C>A
NM_006017.3(PROM1):c.303+14C>A
NM_006017.3(PROM1):c.304-12_304-9del
NM_006017.3(PROM1):c.333A>C (p.Leu111=) rs182877482
NM_006017.3(PROM1):c.348G>A (p.Gly116=)
NM_006017.3(PROM1):c.349C>T (p.Leu117=) rs2149382223
NM_006017.3(PROM1):c.381G>A (p.Gly127=)
NM_006017.3(PROM1):c.42C>T (p.Cys14=)
NM_006017.3(PROM1):c.471C>T (p.Cys157=)
NM_006017.3(PROM1):c.477A>G (p.Ala159=) rs993866138
NM_006017.3(PROM1):c.509+10A>G rs2149381092
NM_006017.3(PROM1):c.509+8C>T rs1686890857
NM_006017.3(PROM1):c.509+9_509+10del rs2149381107
NM_006017.3(PROM1):c.510-20C>T rs1185523887
NM_006017.3(PROM1):c.510-20CT[2]
NM_006017.3(PROM1):c.600C>T (p.Asp200=)
NM_006017.3(PROM1):c.603G>A (p.Leu201=)
NM_006017.3(PROM1):c.613T>C (p.Leu205=) rs1245668116
NM_006017.3(PROM1):c.630+16T>C
NM_006017.3(PROM1):c.630+8C>A rs1730931644
NM_006017.3(PROM1):c.631-13G>T
NM_006017.3(PROM1):c.642T>C (p.Tyr214=) rs368213921
NM_006017.3(PROM1):c.663T>C (p.Thr221=)
NM_006017.3(PROM1):c.694+20_694+21del rs2149336548
NM_006017.3(PROM1):c.695-10T>C
NM_006017.3(PROM1):c.695-10T>G rs2149332361
NM_006017.3(PROM1):c.695-13T>C
NM_006017.3(PROM1):c.695-16G>C rs779849808
NM_006017.3(PROM1):c.695-6A>G rs898988422
NM_006017.3(PROM1):c.750C>A (p.Ile250=) rs1047014321
NM_006017.3(PROM1):c.756T>A (p.Val252=) rs2149331758
NM_006017.3(PROM1):c.759T>C (p.Leu253=)
NM_006017.3(PROM1):c.768T>C (p.Ile256=)
NM_006017.3(PROM1):c.784+9T>C
NM_006017.3(PROM1):c.789C>A (p.Ile263=)
NM_006017.3(PROM1):c.813G>A (p.Glu271=)
NM_006017.3(PROM1):c.888T>A (p.Thr296=) rs2149304790
NM_006017.3(PROM1):c.891C>T (p.Ser297=) rs2149304749
NM_006017.3(PROM1):c.916C>T (p.Leu306=)
NM_006017.3(PROM1):c.918G>A (p.Leu306=)
NM_006017.3(PROM1):c.921C>T (p.Cys307=) rs1578055689
NM_006017.3(PROM1):c.963G>A (p.Leu321=) rs202041422
NM_006017.3(PROM1):c.967C>T (p.Leu323=) rs2149303982

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