List of variants in gene PROM1 reported as uncertain significance for inborn disorder of amino acid metabolism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 104

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HGVS	dbSNP	gnomAD frequency
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.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.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.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.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.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.158G>A (p.Gly53Asp)	rs755064227
NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr)	rs886059200
NM_006017.3(PROM1):c.1954T>G (p.Tyr652Asp)	rs768320190
NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly)	rs530749007
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg)	rs199727800
NM_006017.3(PROM1):c.2281-5C>G	rs777654968
NM_006017.3(PROM1):c.2373+13C>G	rs886059199
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.380G>T (p.Gly127Val)	rs1733212554

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