ClinVar Miner

List of variants reported as uncertain significance for autosomal ichthyosis syndrome by Invitae

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 311
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HGVS dbSNP
NC_000005.10:g.(?_148086385)_(148116486_?)dup
NC_000005.10:g.(?_148136963)_(148137011_?)del
NC_000006.12:g.(?_136821564)_(136914934_?)dup
NC_000009.11:g.(?_131707946)_(131709602_?)dup
NC_000009.12:g.(?_128945677)_(128947313_?)dup
NM_000288.4(PEX7):c.115C>A (p.His39Asn)
NM_000288.4(PEX7):c.116A>G (p.His39Arg)
NM_000288.4(PEX7):c.121G>C (p.Gly41Arg)
NM_000288.4(PEX7):c.128C>T (p.Ala43Val)
NM_000288.4(PEX7):c.129G>C (p.Ala43=)
NM_000288.4(PEX7):c.17G>C (p.Gly6Ala)
NM_000288.4(PEX7):c.188+3A>G rs200234391
NM_000288.4(PEX7):c.193G>A (p.Asp65Asn)
NM_000288.4(PEX7):c.203A>T (p.Asp68Val) rs763388501
NM_000288.4(PEX7):c.244G>A (p.Val82Ile)
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg)
NM_000288.4(PEX7):c.331G>A (p.Ala111Thr)
NM_000288.4(PEX7):c.346_348del (p.Ser116del)
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys)
NM_000288.4(PEX7):c.413A>G (p.Lys138Arg)
NM_000288.4(PEX7):c.418-3T>C
NM_000288.4(PEX7):c.467G>A (p.Ser156Asn)
NM_000288.4(PEX7):c.46G>C (p.Gly16Arg)
NM_000288.4(PEX7):c.629A>G (p.Asn210Ser)
NM_000288.4(PEX7):c.701C>T (p.Pro234Leu)
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe)
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291
NM_000288.4(PEX7):c.904-4C>G
NM_000288.4(PEX7):c.917C>T (p.Ser306Phe)
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp)
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg)
NM_001127698.2(SPINK5):c.1188_1189inv (p.Gly397Ser)
NM_006846.3(SPINK5):c.1144A>T (p.Thr382Ser) rs770766012
NM_006846.3(SPINK5):c.1355C>T (p.Thr452Ile) rs1321102136
NM_006846.3(SPINK5):c.1373T>C (p.Ile458Thr) rs1581082573
NM_006846.3(SPINK5):c.139G>T (p.Asp47Tyr) rs199620733
NM_006846.3(SPINK5):c.1499G>A (p.Arg500Gln) rs201428589
NM_006846.3(SPINK5):c.1526T>C (p.Ile509Thr) rs1268068282
NM_006846.3(SPINK5):c.1553G>A (p.Arg518His) rs576310290
NM_006846.3(SPINK5):c.1592T>G (p.Met531Arg) rs985590287
NM_006846.3(SPINK5):c.1660G>A (p.Glu554Lys) rs374599097
NM_006846.3(SPINK5):c.1825C>A (p.Gln609Lys) rs1366194827
NM_006846.3(SPINK5):c.1875A>T (p.Arg625Ser) rs373811778
NM_006846.3(SPINK5):c.1887G>C (p.Lys629Asn) rs772652367
NM_006846.3(SPINK5):c.1907G>A (p.Arg636Gln) rs758747211
NM_006846.3(SPINK5):c.1960C>T (p.Arg654Cys) rs199567491
NM_006846.3(SPINK5):c.2168G>A (p.Arg723Gln) rs755881402
NM_006846.3(SPINK5):c.2276G>A (p.Arg759His) rs781193914
NM_006846.3(SPINK5):c.2296G>A (p.Gly766Arg) rs1008169582
NM_006846.3(SPINK5):c.2419T>G (p.Cys807Gly) rs201815688
NM_006846.3(SPINK5):c.2531A>G (p.Asp844Gly) rs1468330376
NM_006846.3(SPINK5):c.2558G>A (p.Arg853Gln) rs376107938
NM_006846.3(SPINK5):c.2632C>T (p.His878Tyr) rs748500823
NM_006846.3(SPINK5):c.2830T>G (p.Phe944Val) rs1169533706
NM_006846.3(SPINK5):c.2863G>C (p.Val955Leu) rs773604007
NM_006846.3(SPINK5):c.2939A>G (p.Asp980Gly) rs778193022
NM_006846.3(SPINK5):c.2963T>C (p.Leu988Pro) rs553107767
NM_006846.3(SPINK5):c.3075C>T (p.Cys1025=) rs571812048
NM_006846.3(SPINK5):c.3077T>G (p.Met1026Arg) rs373251772
NM_006846.3(SPINK5):c.3091A>G (p.Asn1031Asp) rs1581113847
NM_006846.3(SPINK5):c.3101G>A (p.Arg1034His) rs775295911
NM_006846.3(SPINK5):c.3113C>A (p.Thr1038Lys) rs370311628
NM_006846.3(SPINK5):c.3121C>T (p.Arg1041Cys) rs374003659
NM_006846.3(SPINK5):c.313A>G (p.Arg105Gly) rs371334869
NM_006846.3(SPINK5):c.341A>G (p.Tyr114Cys) rs764853169
NM_006846.3(SPINK5):c.418G>A (p.Gly140Arg) rs573158320
NM_006846.3(SPINK5):c.524G>A (p.Cys175Tyr) rs1279742014
NM_006846.3(SPINK5):c.551G>A (p.Gly184Asp) rs201812473
NM_006846.3(SPINK5):c.59C>T (p.Ala20Val) rs777592836
NM_006846.3(SPINK5):c.603-3C>T rs185217593
NM_006846.3(SPINK5):c.606A>C (p.Leu202Phe) rs750627345
NM_006846.3(SPINK5):c.677A>G (p.Lys226Arg) rs370010334
NM_006846.3(SPINK5):c.730G>A (p.Asp244Asn) rs774534780
NM_006846.3(SPINK5):c.753C>T (p.Gly251=) rs376643233
NM_006846.3(SPINK5):c.803G>A (p.Arg268His) rs375727921
NM_006846.4(SPINK5):c.1039G>C (p.Ala347Pro)
NM_006846.4(SPINK5):c.1055G>T (p.Arg352Ile)
NM_006846.4(SPINK5):c.1072G>A (p.Gly358Arg)
NM_006846.4(SPINK5):c.1078G>A (p.Ala360Thr)
NM_006846.4(SPINK5):c.1084T>A (p.Ser362Thr)
NM_006846.4(SPINK5):c.1129G>A (p.Gly377Arg)
NM_006846.4(SPINK5):c.1205T>C (p.Met402Thr)
NM_006846.4(SPINK5):c.1216TTC[1] (p.Phe407del)
NM_006846.4(SPINK5):c.1221-5T>C
NM_006846.4(SPINK5):c.1221C>T (p.Phe407=)
NM_006846.4(SPINK5):c.122A>C (p.Lys41Thr)
NM_006846.4(SPINK5):c.1339G>A (p.Gly447Arg)
NM_006846.4(SPINK5):c.1342C>T (p.Arg448Trp)
NM_006846.4(SPINK5):c.1345C>A (p.Leu449Ile)
NM_006846.4(SPINK5):c.1386T>A (p.Asp462Glu)
NM_006846.4(SPINK5):c.1438GAA[1] (p.Glu481del)
NM_006846.4(SPINK5):c.1498C>T (p.Arg500Trp)
NM_006846.4(SPINK5):c.1525A>G (p.Ile509Val)
NM_006846.4(SPINK5):c.1546C>T (p.Pro516Ser)
NM_006846.4(SPINK5):c.1602T>A (p.Ser534Arg)
NM_006846.4(SPINK5):c.1607+5G>A
NM_006846.4(SPINK5):c.1617AGA[4] (p.Glu542dup)
NM_006846.4(SPINK5):c.1642GAA[1] (p.Glu549del)
NM_006846.4(SPINK5):c.1681G>A (p.Glu561Lys)
NM_006846.4(SPINK5):c.1682A>G (p.Glu561Gly)
NM_006846.4(SPINK5):c.1754A>C (p.Asn585Thr)
NM_006846.4(SPINK5):c.1774G>C (p.Asp592His)
NM_006846.4(SPINK5):c.178A>G (p.Ile60Val)
NM_006846.4(SPINK5):c.182A>G (p.Asn61Ser)
NM_006846.4(SPINK5):c.1832C>T (p.Ala611Val)
NM_006846.4(SPINK5):c.1903T>C (p.Phe635Leu)
NM_006846.4(SPINK5):c.1955C>T (p.Pro652Leu)
NM_006846.4(SPINK5):c.1961G>A (p.Arg654His)
NM_006846.4(SPINK5):c.19T>C (p.Ser7Pro)
NM_006846.4(SPINK5):c.2072C>T (p.Ala691Val)
NM_006846.4(SPINK5):c.209+3G>A
NM_006846.4(SPINK5):c.211G>A (p.Glu71Lys)
NM_006846.4(SPINK5):c.2138A>T (p.Gln713Leu)
NM_006846.4(SPINK5):c.2162G>A (p.Cys721Tyr)
NM_006846.4(SPINK5):c.2167C>T (p.Arg723Trp)
NM_006846.4(SPINK5):c.2208CAA[1] (p.Asn738del) rs781321238
NM_006846.4(SPINK5):c.2209A>G (p.Asn737Asp)
NM_006846.4(SPINK5):c.2261A>G (p.Lys754Arg)
NM_006846.4(SPINK5):c.2343G>C (p.Met781Ile)
NM_006846.4(SPINK5):c.2369G>A (p.Arg790Gln)
NM_006846.4(SPINK5):c.2372A>C (p.Glu791Ala)
NM_006846.4(SPINK5):c.2383G>A (p.Val795Ile)
NM_006846.4(SPINK5):c.2386C>T (p.Arg796Trp)
NM_006846.4(SPINK5):c.2390G>T (p.Gly797Val)
NM_006846.4(SPINK5):c.2426T>C (p.Met809Thr)
NM_006846.4(SPINK5):c.2447G>A (p.Arg816Lys)
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[1] (p.832TGERSN[1]) rs554634510
NM_006846.4(SPINK5):c.2548C>T (p.Arg850Cys)
NM_006846.4(SPINK5):c.2594G>C (p.Arg865Thr)
NM_006846.4(SPINK5):c.2651T>C (p.Met884Thr)
NM_006846.4(SPINK5):c.2666+5G>A
NM_006846.4(SPINK5):c.2672G>A (p.Arg891Gln)
NM_006846.4(SPINK5):c.2678C>G (p.Ala893Gly)
NM_006846.4(SPINK5):c.2697A>C (p.Lys899Asn)
NM_006846.4(SPINK5):c.2721G>C (p.Lys907Asn)
NM_006846.4(SPINK5):c.274C>G (p.Pro92Ala)
NM_006846.4(SPINK5):c.2759G>A (p.Arg920Gln)
NM_006846.4(SPINK5):c.2759G>C (p.Arg920Pro)
NM_006846.4(SPINK5):c.2782C>A (p.Leu928Ile)
NM_006846.4(SPINK5):c.2825G>A (p.Gly942Glu)
NM_006846.4(SPINK5):c.2837C>T (p.Thr946Ile)
NM_006846.4(SPINK5):c.2849A>G (p.Tyr950Cys)
NM_006846.4(SPINK5):c.3003G>C (p.Arg1001Ser)
NM_006846.4(SPINK5):c.3028T>G (p.Leu1010Val)
NM_006846.4(SPINK5):c.3034C>T (p.Pro1012Ser)
NM_006846.4(SPINK5):c.3035C>T (p.Pro1012Leu)
NM_006846.4(SPINK5):c.3049G>A (p.Asp1017Asn)
NM_006846.4(SPINK5):c.3066C>A (p.Asn1022Lys)
NM_006846.4(SPINK5):c.3166G>A (p.Ala1056Thr)
NM_006846.4(SPINK5):c.3172A>G (p.Ser1058Gly)
NM_006846.4(SPINK5):c.317A>T (p.Asp106Val)
NM_006846.4(SPINK5):c.3186+9A>G
NM_006846.4(SPINK5):c.359G>A (p.Gly120Asp)
NM_006846.4(SPINK5):c.382A>T (p.Asn128Tyr)
NM_006846.4(SPINK5):c.426A>C (p.Gln142His)
NM_006846.4(SPINK5):c.452G>A (p.Cys151Tyr)
NM_006846.4(SPINK5):c.464A>G (p.Asn155Ser)
NM_006846.4(SPINK5):c.493C>A (p.Arg165=)
NM_006846.4(SPINK5):c.493C>T (p.Arg165Trp)
NM_006846.4(SPINK5):c.523T>G (p.Cys175Gly)
NM_006846.4(SPINK5):c.535A>G (p.Asn179Asp)
NM_006846.4(SPINK5):c.586A>G (p.Met196Val)
NM_006846.4(SPINK5):c.587T>C (p.Met196Thr)
NM_006846.4(SPINK5):c.588G>C (p.Met196Ile)
NM_006846.4(SPINK5):c.631G>A (p.Glu211Lys)
NM_006846.4(SPINK5):c.652C>G (p.Arg218Gly)
NM_006846.4(SPINK5):c.655A>G (p.Asn219Asp)
NM_006846.4(SPINK5):c.666G>T (p.Lys222Asn)
NM_006846.4(SPINK5):c.719C>G (p.Thr240Arg)
NM_006846.4(SPINK5):c.745C>T (p.Pro249Ser)
NM_006846.4(SPINK5):c.781T>G (p.Cys261Gly)
NM_006846.4(SPINK5):c.788A>C (p.Glu263Ala)
NM_006846.4(SPINK5):c.80A>G (p.Gln27Arg)
NM_006846.4(SPINK5):c.81+3T>C
NM_006846.4(SPINK5):c.85A>G (p.Met29Val)
NM_006846.4(SPINK5):c.886C>G (p.Leu296Val)
NM_006846.4(SPINK5):c.893G>A (p.Ser298Asn)
NM_006846.4(SPINK5):c.917A>G (p.Asn306Ser)
NM_006846.4(SPINK5):c.962C>T (p.Pro321Leu)
NM_006846.4(SPINK5):c.999T>G (p.Cys333Trp)
NM_014908.3(DOLK):c.101T>C (p.Ile34Thr) rs1554826863
NM_014908.3(DOLK):c.1067G>A (p.Arg356Gln) rs199535796
NM_014908.3(DOLK):c.1087G>A (p.Ala363Thr) rs1588262062
NM_014908.3(DOLK):c.1129C>T (p.Arg377Cys) rs868232833
NM_014908.3(DOLK):c.1139G>A (p.Arg380His) rs553112177
NM_014908.3(DOLK):c.1165C>T (p.Arg389Trp) rs758129067
NM_014908.3(DOLK):c.1166G>A (p.Arg389Gln) rs201984428
NM_014908.3(DOLK):c.1241G>A (p.Gly414Asp) rs1554826737
NM_014908.3(DOLK):c.1257C>G (p.Ile419Met) rs138962748
NM_014908.3(DOLK):c.1262T>C (p.Leu421Pro) rs145125254
NM_014908.3(DOLK):c.1303G>C (p.Ala435Pro) rs1306365829
NM_014908.3(DOLK):c.1333C>A (p.Leu445Met) rs866088033
NM_014908.3(DOLK):c.1357G>C (p.Val453Leu) rs1294479059
NM_014908.3(DOLK):c.1373G>T (p.Gly458Val) rs999023298
NM_014908.3(DOLK):c.137C>T (p.Ala46Val) rs1554826859
NM_014908.3(DOLK):c.1438A>G (p.Ile480Val) rs144209926
NM_014908.3(DOLK):c.1462G>T (p.Ala488Ser) rs1588261659
NM_014908.3(DOLK):c.1532G>A (p.Ser511Asn) rs1178866364
NM_014908.3(DOLK):c.1558A>G (p.Thr520Ala) rs374860681
NM_014908.3(DOLK):c.164A>G (p.Tyr55Cys) rs41305507
NM_014908.3(DOLK):c.194A>G (p.Gln65Arg) rs754744977
NM_014908.3(DOLK):c.206C>T (p.Ala69Val) rs1554826850
NM_014908.3(DOLK):c.288G>C (p.Lys96Asn) rs771259120
NM_014908.3(DOLK):c.292C>T (p.Arg98Trp) rs747555089
NM_014908.3(DOLK):c.313C>A (p.Pro105Thr) rs1454594732
NM_014908.3(DOLK):c.344C>T (p.Ala115Val) rs146804211
NM_014908.3(DOLK):c.376T>G (p.Ser126Ala) rs1564546286
NM_014908.3(DOLK):c.379G>A (p.Val127Met) rs752310792
NM_014908.3(DOLK):c.401G>A (p.Arg134His) rs768596252
NM_014908.3(DOLK):c.407T>C (p.Val136Ala) rs1306944564
NM_014908.3(DOLK):c.412A>G (p.Thr138Ala) rs933514904
NM_014908.3(DOLK):c.429C>G (p.Ile143Met) rs1261719011
NM_014908.3(DOLK):c.560G>A (p.Arg187His) rs377658203
NM_014908.3(DOLK):c.560G>T (p.Arg187Leu) rs377658203
NM_014908.3(DOLK):c.572C>A (p.Pro191His) rs767965852
NM_014908.3(DOLK):c.611T>C (p.Val204Ala) rs1554826810
NM_014908.3(DOLK):c.703G>A (p.Val235Ile) rs759019995
NM_014908.3(DOLK):c.710T>C (p.Met237Thr) rs201363976
NM_014908.3(DOLK):c.767C>T (p.Ser256Phe) rs1186154711
NM_014908.3(DOLK):c.898C>T (p.Leu300Phe) rs371529625
NM_014908.3(DOLK):c.914C>G (p.Ser305Cys) rs766759178
NM_014908.3(DOLK):c.931G>T (p.Ala311Ser) rs1554826773
NM_014908.3(DOLK):c.971_974delinsT (p.Ser324_Ser325delinsPhe) rs1554826767
NM_014908.4(DOLK):c.1000A>T (p.Thr334Ser)
NM_014908.4(DOLK):c.1006G>A (p.Ala336Thr)
NM_014908.4(DOLK):c.1009C>G (p.Arg337Gly)
NM_014908.4(DOLK):c.1058T>C (p.Ile353Thr)
NM_014908.4(DOLK):c.1065C>G (p.Asp355Glu)
NM_014908.4(DOLK):c.1138C>T (p.Arg380Cys)
NM_014908.4(DOLK):c.1159A>G (p.Thr387Ala)
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe)
NM_014908.4(DOLK):c.1190A>G (p.Asp397Gly)
NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs)
NM_014908.4(DOLK):c.1224_1225del (p.Ile409fs)
NM_014908.4(DOLK):c.1227C>G (p.Ile409Met)
NM_014908.4(DOLK):c.122G>A (p.Arg41Gln)
NM_014908.4(DOLK):c.1235T>C (p.Leu412Pro)
NM_014908.4(DOLK):c.1245_1246del (p.Met415fs)
NM_014908.4(DOLK):c.1267C>T (p.Pro423Ser)
NM_014908.4(DOLK):c.1275del (p.Cys426fs)
NM_014908.4(DOLK):c.1283A>C (p.Gln428Pro)
NM_014908.4(DOLK):c.1288G>C (p.Gly430Arg)
NM_014908.4(DOLK):c.128C>T (p.Ser43Leu)
NM_014908.4(DOLK):c.1303G>A (p.Ala435Thr)
NM_014908.4(DOLK):c.1312C>T (p.Leu438Phe)
NM_014908.4(DOLK):c.1315G>A (p.Val439Ile)
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr) rs143641133
NM_014908.4(DOLK):c.1381A>G (p.Met461Val)
NM_014908.4(DOLK):c.1394G>A (p.Arg465His) rs148930043
NM_014908.4(DOLK):c.1402G>A (p.Gly468Arg)
NM_014908.4(DOLK):c.1419T>G (p.Phe473Leu)
NM_014908.4(DOLK):c.1424G>T (p.Gly475Val)
NM_014908.4(DOLK):c.1431G>A (p.Met477Ile)
NM_014908.4(DOLK):c.1490T>C (p.Val497Ala)
NM_014908.4(DOLK):c.1528A>G (p.Ile510Val)
NM_014908.4(DOLK):c.1568T>C (p.Ile523Thr)
NM_014908.4(DOLK):c.172T>G (p.Tyr58Asp)
NM_014908.4(DOLK):c.187C>G (p.Leu63Val)
NM_014908.4(DOLK):c.196C>T (p.Gln66Ter) rs876657785
NM_014908.4(DOLK):c.203G>T (p.Ser68Ile)
NM_014908.4(DOLK):c.216G>T (p.Gln72His)
NM_014908.4(DOLK):c.248C>T (p.Pro83Leu)
NM_014908.4(DOLK):c.250G>T (p.Ala84Ser)
NM_014908.4(DOLK):c.266C>T (p.Pro89Leu)
NM_014908.4(DOLK):c.304G>T (p.Ala102Ser)
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly) rs779008975
NM_014908.4(DOLK):c.324G>C (p.Glu108Asp)
NM_014908.4(DOLK):c.34C>A (p.Pro12Thr)
NM_014908.4(DOLK):c.385G>T (p.Ala129Ser)
NM_014908.4(DOLK):c.432G>C (p.Leu144Phe)
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala) rs377064301
NM_014908.4(DOLK):c.463A>T (p.Met155Leu)
NM_014908.4(DOLK):c.489G>T (p.Glu163Asp)
NM_014908.4(DOLK):c.507A>T (p.Glu169Asp)
NM_014908.4(DOLK):c.509T>G (p.Val170Gly)
NM_014908.4(DOLK):c.523G>A (p.Val175Ile)
NM_014908.4(DOLK):c.534C>A (p.Asn178Lys)
NM_014908.4(DOLK):c.572C>G (p.Pro191Arg)
NM_014908.4(DOLK):c.589G>A (p.Val197Ile)
NM_014908.4(DOLK):c.603T>G (p.Ile201Met)
NM_014908.4(DOLK):c.684GGT[2] (p.Val232del)
NM_014908.4(DOLK):c.702G>C (p.Met234Ile)
NM_014908.4(DOLK):c.719T>C (p.Phe240Ser)
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn) rs876657786
NM_014908.4(DOLK):c.758G>C (p.Trp253Ser)
NM_014908.4(DOLK):c.839G>A (p.Arg280His)
NM_014908.4(DOLK):c.859C>T (p.Leu287Phe)
NM_014908.4(DOLK):c.860TTC[1] (p.Leu288del) rs773789842
NM_014908.4(DOLK):c.86C>T (p.Ala29Val)
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu)
NM_014908.4(DOLK):c.8G>A (p.Arg3Gln)
NM_014908.4(DOLK):c.908A>G (p.Tyr303Cys)
NM_014908.4(DOLK):c.977A>T (p.Glu326Val)
NM_058179.4(PSAT1):c.1097A>G (p.Glu366Gly)
NM_058179.4(PSAT1):c.181C>T (p.Arg61Trp)
NM_058179.4(PSAT1):c.296_297delinsTG (p.Ala99Val) rs1057517807
NM_058179.4(PSAT1):c.334G>A (p.Ala112Thr)
NM_058179.4(PSAT1):c.370G>A (p.Val124Ile)
NM_058179.4(PSAT1):c.395C>G (p.Thr132Arg) rs1564013551
NM_058179.4(PSAT1):c.481G>A (p.Glu161Lys)
NM_058179.4(PSAT1):c.511G>C (p.Ala171Pro)
NM_058179.4(PSAT1):c.794C>T (p.Ala265Val)
NM_058179.4(PSAT1):c.851A>G (p.Asn284Ser)
NM_058179.4(PSAT1):c.868G>A (p.Val290Ile) rs200049723
NM_182760.4(SUMF1):c.1091G>A (p.Arg364His)
NM_182760.4(SUMF1):c.140C>G (p.Ala47Gly) rs779961693
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu)
NM_182760.4(SUMF1):c.362T>C (p.Ile121Thr)
NM_182760.4(SUMF1):c.482T>C (p.Met161Thr)
NM_182760.4(SUMF1):c.890A>C (p.Asn297Thr) rs749715515

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