ClinVar Miner

List of variants in gene PIGT studied for inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 222
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HGVS dbSNP gnomAD frequency
NM_015937.6(PIGT):c.1620T>C (p.Tyr540=) rs707577 0.76713
NM_015937.6(PIGT):c.1400+48T>C rs2741566 0.73775
NM_015937.6(PIGT):c.1371G>A (p.Thr457=) rs13217 0.38173
NM_015937.6(PIGT):c.770A>C (p.Asp257Ala) rs61753669 0.01749
NM_015937.6(PIGT):c.1417G>A (p.Ala473Thr) rs36056071 0.00999
NM_015937.6(PIGT):c.367G>T (p.Val123Leu) rs141420243 0.00626
NM_015937.6(PIGT):c.969C>T (p.Thr323=) rs116312756 0.00428
NM_015937.6(PIGT):c.533G>A (p.Arg178Gln) rs80158178 0.00413
NM_015937.6(PIGT):c.1061C>T (p.Ala354Val) rs146896700 0.00308
NM_015937.6(PIGT):c.1067G>A (p.Arg356Gln) rs139366969 0.00215
NM_015937.6(PIGT):c.675T>C (p.Val225=) rs147475258 0.00193
NM_015937.6(PIGT):c.12T>C (p.Ala4=) rs371353348 0.00172
NM_015937.6(PIGT):c.531G>A (p.Pro177=) rs138301099 0.00078
NM_015937.6(PIGT):c.806C>T (p.Thr269Met) rs149740779 0.00073
NM_015937.6(PIGT):c.918C>T (p.Asp306=) rs145469946 0.00071
NM_015937.6(PIGT):c.1038C>A (p.Ala346=) rs141166012 0.00043
NM_015937.6(PIGT):c.1707C>T (p.Ile569=) rs201975150 0.00039
NM_015937.6(PIGT):c.1343G>A (p.Arg448Gln) rs148710839 0.00021
NM_015937.6(PIGT):c.753G>A (p.Thr251=) rs374179368 0.00014
NM_015937.6(PIGT):c.1127A>C (p.His376Pro) rs779442458 0.00013
NM_015937.6(PIGT):c.494-5C>T rs201944222 0.00011
NM_015937.6(PIGT):c.22G>T (p.Ala8Ser) rs569386009 0.00010
NM_015937.6(PIGT):c.988C>T (p.Arg330Ter) rs201317502 0.00010
NM_015937.6(PIGT):c.634C>T (p.His212Tyr) rs574183358 0.00009
NM_015937.6(PIGT):c.1597T>G (p.Cys533Gly) rs368489270 0.00008
NM_015937.6(PIGT):c.689G>A (p.Arg230His) rs139991610 0.00008
NM_015937.6(PIGT):c.306C>T (p.Pro102=) rs201701603 0.00007
NM_015937.6(PIGT):c.836G>A (p.Arg279Gln) rs202220796 0.00007
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170 0.00006
NM_015937.6(PIGT):c.494-2A>G rs200790673 0.00006
NM_015937.6(PIGT):c.864C>T (p.Asn288=) rs35320070 0.00006
NM_015937.6(PIGT):c.738T>G (p.Phe246Leu) rs374825388 0.00005
NM_015937.6(PIGT):c.918dup (p.Val307fs) rs751861982 0.00005
NM_015937.6(PIGT):c.1033+15G>C rs1183959983 0.00004
NM_015937.6(PIGT):c.1082A>G (p.Tyr361Cys) rs781604094 0.00004
NM_015937.6(PIGT):c.1164C>T (p.Thr388=) rs147511743 0.00004
NM_015937.6(PIGT):c.1265G>A (p.Arg422Gln) rs374038914 0.00004
NM_015937.6(PIGT):c.1279C>T (p.Leu427Phe) rs778543062 0.00004
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp) rs527236031 0.00004
NM_015937.6(PIGT):c.1520G>A (p.Arg507Gln) rs769195904 0.00004
NM_015937.6(PIGT):c.1581C>T (p.Asn527=) rs201928497 0.00004
NM_015937.6(PIGT):c.1659C>T (p.Ile553=) rs776332148 0.00004
NM_015937.6(PIGT):c.1670G>A (p.Arg557His) rs762745361 0.00004
NM_015937.6(PIGT):c.167C>T (p.Ser56Leu) rs745993015 0.00004
NM_015937.6(PIGT):c.1554G>A (p.Pro518=) rs758598966 0.00003
NM_015937.6(PIGT):c.868-10G>A rs752291543 0.00003
NM_015937.6(PIGT):c.949A>G (p.Ile317Val) rs773624614 0.00003
NM_015937.6(PIGT):c.1073T>G (p.Val358Gly) rs755236661 0.00002
NM_015937.6(PIGT):c.1305G>A (p.Pro435=) rs144302866 0.00002
NM_015937.6(PIGT):c.1691G>A (p.Arg564Gln) rs367629282 0.00002
NM_015937.6(PIGT):c.1717C>T (p.Arg573Ter) rs774183841 0.00002
NM_015937.6(PIGT):c.188-2A>G rs771691280 0.00002
NM_015937.6(PIGT):c.417C>T (p.Cys139=) rs150090118 0.00002
NM_015937.6(PIGT):c.438C>T (p.Asp146=) rs747705835 0.00002
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys) rs778531326 0.00002
NM_015937.6(PIGT):c.835C>T (p.Arg279Ter) rs199968454 0.00002
NM_015937.6(PIGT):c.1034-5C>A rs1378224236 0.00001
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val) rs1277383877 0.00001
NM_015937.6(PIGT):c.1267C>G (p.Leu423Val) rs957114414 0.00001
NM_015937.6(PIGT):c.1425G>T (p.Val475=) rs1008866401 0.00001
NM_015937.6(PIGT):c.1519C>T (p.Arg507Trp) rs146484791 0.00001
NM_015937.6(PIGT):c.1553C>T (p.Pro518Leu) rs765005497 0.00001
NM_015937.6(PIGT):c.1579A>C (p.Asn527His) rs199800874 0.00001
NM_015937.6(PIGT):c.1680C>G (p.Gly560=) rs1990710773 0.00001
NM_015937.6(PIGT):c.1690C>T (p.Arg564Trp) rs752874517 0.00001
NM_015937.6(PIGT):c.1711C>T (p.Arg571Cys) rs375221973 0.00001
NM_015937.6(PIGT):c.1729C>G (p.Pro577Ala) rs764299877 0.00001
NM_015937.6(PIGT):c.188-12C>T rs1989983670 0.00001
NM_015937.6(PIGT):c.204C>T (p.Leu68=) rs761696215 0.00001
NM_015937.6(PIGT):c.250G>T (p.Glu84Ter) rs756632799 0.00001
NM_015937.6(PIGT):c.532C>T (p.Arg178Trp) rs199624997 0.00001
NM_015937.6(PIGT):c.550G>A (p.Glu184Lys) rs774753616 0.00001
NM_015937.6(PIGT):c.796C>T (p.Arg266Ter) rs754517456 0.00001
NM_015937.6(PIGT):c.819C>G (p.Pro273=) rs993697819 0.00001
NM_015937.6(PIGT):c.8C>T (p.Ala3Val) rs764788407 0.00001
NM_015937.6(PIGT):c.957C>T (p.Asp319=) rs766725081 0.00001
NC_000020.10:g.(?_44044789)_(44054466_?)dup
NM_015937.6(PIGT):c.1002C>T (p.Ile334=)
NM_015937.6(PIGT):c.1008C>T (p.Leu336=)
NM_015937.6(PIGT):c.1033+20G>T
NM_015937.6(PIGT):c.1036G>C (p.Ala346Pro)
NM_015937.6(PIGT):c.1043del (p.Pro348fs)
NM_015937.6(PIGT):c.1043dup (p.Val349fs) rs749895437
NM_015937.6(PIGT):c.1045G>A (p.Val349Met) rs1442239045
NM_015937.6(PIGT):c.1059T>C (p.His353=)
NM_015937.6(PIGT):c.1071C>T (p.Tyr357=) rs1375716987
NM_015937.6(PIGT):c.1084G>T (p.Gly362Trp)
NM_015937.6(PIGT):c.108C>T (p.Ile36=)
NM_015937.6(PIGT):c.1096G>T (p.Gly366Trp) rs571714796
NM_015937.6(PIGT):c.1125C>T (p.Thr375=)
NM_015937.6(PIGT):c.1126C>G (p.His376Asp)
NM_015937.6(PIGT):c.113C>T (p.Pro38Leu)
NM_015937.6(PIGT):c.1153C>T (p.Leu385=)
NM_015937.6(PIGT):c.1155G>A (p.Leu385=)
NM_015937.6(PIGT):c.1180C>T (p.Arg394Trp)
NM_015937.6(PIGT):c.1197C>G (p.Thr399=) rs2145455443
NM_015937.6(PIGT):c.1200C>T (p.Leu400=)
NM_015937.6(PIGT):c.1234+7A>T rs1362621530
NM_015937.6(PIGT):c.1235-15C>T
NM_015937.6(PIGT):c.1252C>G (p.Pro418Ala)
NM_015937.6(PIGT):c.1257C>T (p.Ala419=)
NM_015937.6(PIGT):c.1264C>T (p.Arg422Trp)
NM_015937.6(PIGT):c.1266G>A (p.Arg422=)
NM_015937.6(PIGT):c.1284G>A (p.Leu428=)
NM_015937.6(PIGT):c.1297C>G (p.Gln433Glu)
NM_015937.6(PIGT):c.1304C>T (p.Pro435Leu)
NM_015937.6(PIGT):c.1346C>T (p.Ala449Val)
NM_015937.6(PIGT):c.1350G>A (p.Leu450=) rs1600823044
NM_015937.6(PIGT):c.135C>T (p.Ala45=) rs1203306715
NM_015937.6(PIGT):c.1362C>T (p.Thr454=)
NM_015937.6(PIGT):c.1400+15C>A
NM_015937.6(PIGT):c.1407T>G (p.Ser469=)
NM_015937.6(PIGT):c.1421T>C (p.Leu474Pro) rs2145470280
NM_015937.6(PIGT):c.1440A>T (p.Ala480=)
NM_015937.6(PIGT):c.1455C>G (p.Asp485Glu) rs1990591329
NM_015937.6(PIGT):c.1484+18C>T rs1238761958
NM_015937.6(PIGT):c.1502G>A (p.Gly501Asp)
NM_015937.6(PIGT):c.1520_1521insCTCTACA (p.Leu508fs)
NM_015937.6(PIGT):c.1528A>T (p.Thr510Ser) rs1600827703
NM_015937.6(PIGT):c.1529C>T (p.Thr510Met)
NM_015937.6(PIGT):c.1553C>G (p.Pro518Arg)
NM_015937.6(PIGT):c.1560G>A (p.Pro520=)
NM_015937.6(PIGT):c.1571T>C (p.Met524Thr)
NM_015937.6(PIGT):c.1575C>G (p.Pro525=)
NM_015937.6(PIGT):c.1578C>T (p.Tyr526=)
NM_015937.6(PIGT):c.1591C>T (p.Leu531Phe)
NM_015937.6(PIGT):c.1594dup (p.Thr532fs)
NM_015937.6(PIGT):c.1611C>T (p.Ala537=)
NM_015937.6(PIGT):c.1613T>C (p.Val538Ala)
NM_015937.6(PIGT):c.1620_1621inv (p.Gly541Ser)
NM_015937.6(PIGT):c.1634A>G (p.Asn545Ser)
NM_015937.6(PIGT):c.1641C>T (p.Leu547=)
NM_015937.6(PIGT):c.1646G>A (p.Arg549Gln)
NM_015937.6(PIGT):c.1650C>T (p.Thr550=)
NM_015937.6(PIGT):c.1660G>A (p.Glu554Lys)
NM_015937.6(PIGT):c.1669C>T (p.Arg557Cys)
NM_015937.6(PIGT):c.1676G>A (p.Gly559Asp)
NM_015937.6(PIGT):c.1683G>A (p.Leu561=)
NM_015937.6(PIGT):c.1712G>A (p.Arg571His)
NM_015937.6(PIGT):c.1713C>A (p.Arg571=)
NM_015937.6(PIGT):c.1730del (p.Pro577fs)
NM_015937.6(PIGT):c.1730dup (p.Leu578fs) rs760395465
NM_015937.6(PIGT):c.17del (p.Pro6fs)
NM_015937.6(PIGT):c.190T>C (p.Ser64Pro) rs2145432883
NM_015937.6(PIGT):c.19C>T (p.Leu7Phe)
NM_015937.6(PIGT):c.221G>T (p.Gly74Val)
NM_015937.6(PIGT):c.23C>G (p.Ala8Gly)
NM_015937.6(PIGT):c.25C>T (p.Leu9=)
NM_015937.6(PIGT):c.262T>C (p.Ser88Pro) rs2145433234
NM_015937.6(PIGT):c.264A>G (p.Ser88=)
NM_015937.6(PIGT):c.271C>T (p.Gln91Ter) rs1334035467
NM_015937.6(PIGT):c.273A>G (p.Gln91=)
NM_015937.6(PIGT):c.293A>G (p.Tyr98Cys)
NM_015937.6(PIGT):c.295T>G (p.Trp99Gly)
NM_015937.6(PIGT):c.33C>T (p.Val11=)
NM_015937.6(PIGT):c.365+13C>G
NM_015937.6(PIGT):c.365+13C>T
NM_015937.6(PIGT):c.365+17G>T
NM_015937.6(PIGT):c.366-17T>C
NM_015937.6(PIGT):c.366-8C>T
NM_015937.6(PIGT):c.424C>T (p.Leu142Phe) rs757652787
NM_015937.6(PIGT):c.435C>T (p.Ile145=)
NM_015937.6(PIGT):c.458C>T (p.Pro153Leu)
NM_015937.6(PIGT):c.46G>T (p.Gly16Trp)
NM_015937.6(PIGT):c.471C>T (p.Phe157=)
NM_015937.6(PIGT):c.484C>T (p.Leu162=)
NM_015937.6(PIGT):c.489C>T (p.Ala163=)
NM_015937.6(PIGT):c.493+11C>A
NM_015937.6(PIGT):c.493+12C>T
NM_015937.6(PIGT):c.493+16C>T
NM_015937.6(PIGT):c.494-10T>G
NM_015937.6(PIGT):c.494-16C>T
NM_015937.6(PIGT):c.527T>C (p.Leu176Pro)
NM_015937.6(PIGT):c.543C>T (p.Val181=)
NM_015937.6(PIGT):c.545G>A (p.Cys182Tyr)
NM_015937.6(PIGT):c.547A>C (p.Thr183Pro) rs587777027
NM_015937.6(PIGT):c.564del (p.Trp189fs)
NM_015937.6(PIGT):c.573G>A (p.Lys191=)
NM_015937.6(PIGT):c.578T>G (p.Leu193Trp)
NM_015937.6(PIGT):c.57del (p.Trp20fs) rs763009552
NM_015937.6(PIGT):c.580C>T (p.Pro194Ser)
NM_015937.6(PIGT):c.581C>T (p.Pro194Leu)
NM_015937.6(PIGT):c.594+36dup rs3092108
NM_015937.6(PIGT):c.594+9G>A rs375333648
NM_015937.6(PIGT):c.595-10T>A
NM_015937.6(PIGT):c.595-5_595-3del
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro) rs1555876854
NM_015937.6(PIGT):c.612_613delinsTT (p.Leu204_Leu205=) rs1990214691
NM_015937.6(PIGT):c.61T>G (p.Cys21Gly) rs2145431246
NM_015937.6(PIGT):c.625C>T (p.Arg209Cys)
NM_015937.6(PIGT):c.662A>G (p.His221Arg)
NM_015937.6(PIGT):c.667C>T (p.Arg223Cys)
NM_015937.6(PIGT):c.668G>A (p.Arg223His)
NM_015937.6(PIGT):c.67G>A (p.Ala23Thr)
NM_015937.6(PIGT):c.681+18G>A
NM_015937.6(PIGT):c.681+8A>G
NM_015937.6(PIGT):c.688C>T (p.Arg230Cys)
NM_015937.6(PIGT):c.6G>C (p.Ala2=) rs1041711313
NM_015937.6(PIGT):c.709G>C (p.Glu237Gln)
NM_015937.6(PIGT):c.70G>A (p.Glu24Lys)
NM_015937.6(PIGT):c.725T>A (p.Leu242Gln)
NM_015937.6(PIGT):c.742G>T (p.Ala248Ser)
NM_015937.6(PIGT):c.74C>T (p.Pro25Leu) rs1227162426
NM_015937.6(PIGT):c.752C>T (p.Thr251Met)
NM_015937.6(PIGT):c.769+5G>A
NM_015937.6(PIGT):c.770-12T>A
NM_015937.6(PIGT):c.770-14G>A
NM_015937.6(PIGT):c.770-15C>T
NM_015937.6(PIGT):c.770-9G>T
NM_015937.6(PIGT):c.777C>T (p.Ser259=) rs764520337
NM_015937.6(PIGT):c.807G>A (p.Thr269=)
NM_015937.6(PIGT):c.81C>G (p.Arg27=)
NM_015937.6(PIGT):c.837A>T (p.Arg279=)
NM_015937.6(PIGT):c.842A>G (p.Tyr281Cys)
NM_015937.6(PIGT):c.848A>T (p.Asp283Val) rs574857016
NM_015937.6(PIGT):c.873C>T (p.Asn291=)
NM_015937.6(PIGT):c.879A>G (p.Thr293=)
NM_015937.6(PIGT):c.886G>A (p.Val296Met)
NM_015937.6(PIGT):c.918_919insT (p.Val307fs) rs527236032
NM_015937.6(PIGT):c.925C>G (p.Leu309Val)
NM_015937.6(PIGT):c.962T>G (p.Leu321Arg)
NM_015937.6(PIGT):c.979A>C (p.Asn327His)

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