ClinVar Miner

List of variants reported as benign for inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 202
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HGVS dbSNP gnomAD frequency
NM_032634.4(PIGO):c.*41T>G rs556766 0.98454
NM_001127178.3(PIGG):c.2261+49A>T rs7697650 0.97007
NM_001127178.3(PIGG):c.571-563A>G rs4690182 0.87699
NM_176787.5(PIGN):c.685C>G (p.His229Asp) rs9320001 0.79552
NM_015937.6(PIGT):c.1620T>C (p.Tyr540=) rs707577 0.76713
NM_015937.6(PIGT):c.1400+48T>C rs2741566 0.73775
NM_033419.5(PGAP3):c.900-10T>C rs2247862 0.63744
NM_033419.5(PGAP3):c.465T>C (p.Val155=) rs2941504 0.63491
NM_176787.5(PIGN):c.741C>T (p.His247=) rs9320000 0.56637
NM_176787.5(PIGN):c.344-30T>A rs1021953 0.52712
NM_032634.4(PIGO):c.1119+7A>G rs568300 0.52243
NM_003896.3(ST3GAL5):c.-141T>C rs28364794 0.49269
NM_004278.4(PIGL):c.*20A>G rs15739 0.39527
NM_015937.6(PIGT):c.1371G>A (p.Thr457=) rs13217 0.38173
NM_176787.5(PIGN):c.1116+26G>A rs2298779 0.35890
NM_003896.3(ST3GAL5):c.-140C>A rs28364795 0.32699
NM_176787.5(PIGN):c.1023+18A>G rs12608212 0.31260
NM_176787.5(PIGN):c.2502+49A>G rs1560502 0.28608
NM_176787.5(PIGN):c.939T>C (p.Asn313=) rs34227891 0.24195
NM_176787.5(PIGN):c.806-7T>A rs61751989 0.21786
NM_032634.4(PIGO):c.2004G>A (p.Leu668=) rs10814196 0.19210
NM_001127178.3(PIGG):c.1989C>T (p.Ala663=) rs13150531 0.19173
NM_001127178.3(PIGG):c.1828T>C (p.Cys610Arg) rs7666425 0.19169
NM_001127178.3(PIGG):c.1743T>C (p.Leu581=) rs7666226 0.19160
NM_001127178.3(PIGG):c.2795T>C (p.Phe932Ser) rs1127410 0.19048
NM_001127178.3(PIGG):c.2642T>C (p.Ile881Thr) rs34623004 0.18986
NM_176787.5(PIGN):c.1962G>A (p.Leu654=) rs12326381 0.17264
NM_176787.5(PIGN):c.1245T>C (p.Asp415=) rs13381627 0.17246
NM_176787.5(PIGN):c.2010T>C (p.Thr670=) rs17714063 0.17242
NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg) rs1138484 0.17151
NM_176787.5(PIGN):c.1752G>A (p.Leu584=) rs9319997 0.17086
NM_176787.5(PIGN):c.1377T>C (p.Ser459=) rs17714875 0.16805
NM_001127178.3(PIGG):c.2095G>A (p.Val699Ile) rs13114026 0.15552
NM_001127178.3(PIGG):c.1373G>A (p.Arg458His) rs13115344 0.13254
NM_145167.3(PIGM):c.1095T>A (p.Phe365Leu) rs12409352 0.12873
NM_176787.5(PIGN):c.1859+17A>G rs75516428 0.06372
NM_004278.4(PIGL):c.*86A>G rs2302314 0.06241
NM_017837.4(PIGV):c.-338A>C rs113400508 0.05897
NM_017837.4(PIGV):c.*210A>G rs57189461 0.05712
NM_176787.5(PIGN):c.484A>G (p.Lys162Glu) rs17069506 0.04997
NM_001346754.2(PIGW):c.376A>G (p.Asn126Asp) rs72818370 0.04955
NM_145167.3(PIGM):c.1150A>G (p.Asn384Asp) rs61747491 0.04277
NM_001127178.3(PIGG):c.2191G>A (p.Val731Ile) rs34916638 0.03501
NM_002641.4(PIGA):c.55C>T (p.Arg19Trp) rs34422225 0.03093
NM_032634.4(PIGO):c.3114C>T (p.Leu1038=) rs2298314 0.02715
NM_001127178.3(PIGG):c.990T>C (p.Ser330=) rs11726338 0.02569
NM_176787.5(PIGN):c.2619+14G>A rs141117706 0.01868
NM_015937.6(PIGT):c.770A>C (p.Asp257Ala) rs61753669 0.01749
NM_145167.3(PIGM):c.180C>T (p.Arg60=) rs41265753 0.01647
NM_001127178.3(PIGG):c.1967C>T (p.Ala656Val) rs61749092 0.01599
NM_032634.4(PIGO):c.1404A>C (p.Ala468=) rs35287398 0.01214
NM_176787.5(PIGN):c.167C>T (p.Ala56Val) rs61755362 0.01101
NM_032634.4(PIGO):c.423C>T (p.Gly141=) rs116248521 0.01090
NM_015937.6(PIGT):c.1417G>A (p.Ala473Thr) rs36056071 0.00999
NM_017837.4(PIGV):c.615C>T (p.Asn205=) rs34512715 0.00995
NM_145167.3(PIGM):c.582G>T (p.Leu194=) rs35060029 0.00980
NM_001346754.2(PIGW):c.1020C>T (p.Ala340=) rs74323480 0.00953
NM_001127178.3(PIGG):c.158C>A (p.Ala53Asp) rs28454778 0.00937
NM_176787.5(PIGN):c.1488A>G (p.Ala496=) rs2298784 0.00911
NM_001346754.2(PIGW):c.705C>G (p.His235Gln) rs61755368 0.00885
NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu) rs34231046 0.00853
NM_001127178.3(PIGG):c.2069+16C>T rs144533568 0.00716
NM_004278.4(PIGL):c.*364G>A rs114659268 0.00706
NM_032634.4(PIGO):c.1120-15C>A rs77344591 0.00631
NM_032634.4(PIGO):c.2432G>A (p.Arg811Gln) rs75579358 0.00578
NM_176787.5(PIGN):c.1251+11C>T rs141918272 0.00571
NM_032634.4(PIGO):c.1473G>C (p.Leu491=) rs76932500 0.00557
NM_003896.4(ST3GAL5):c.849+19A>G rs80130823 0.00552
NM_003896.4(ST3GAL5):c.*482G>A rs115544178 0.00535
NM_032634.4(PIGO):c.2040G>C (p.Leu680=) rs41274877 0.00511
NM_017837.4(PIGV):c.101C>T (p.Pro34Leu) rs139246652 0.00505
NM_001127178.3(PIGG):c.1520C>T (p.Ala507Val) rs144879126 0.00498
NM_001127178.3(PIGG):c.1930G>A (p.Glu644Lys) rs114931121 0.00498
NM_003896.4(ST3GAL5):c.*594G>A rs116456890 0.00476
NM_015937.6(PIGT):c.969C>T (p.Thr323=) rs116312756 0.00428
NM_001127178.3(PIGG):c.759+16G>A rs148792489 0.00426
NM_015937.6(PIGT):c.533G>A (p.Arg178Gln) rs80158178 0.00413
NM_145167.3(PIGM):c.6C>T (p.Gly2=) rs61757715 0.00397
NM_176787.5(PIGN):c.964-20T>C rs148402610 0.00373
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=) rs149309844 0.00369
NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser) rs559756386 0.00354
NM_176787.5(PIGN):c.309T>C (p.Ala103=) rs17069511 0.00346
NM_001127178.3(PIGG):c.771G>A (p.Thr257=) rs35496504 0.00322
NM_003896.4(ST3GAL5):c.850-5C>T rs113976691 0.00319
NM_032634.4(PIGO):c.2268G>A (p.Ala756=) rs149171782 0.00310
NM_015937.6(PIGT):c.1061C>T (p.Ala354Val) rs146896700 0.00308
NM_176787.5(PIGN):c.528G>A (p.Thr176=) rs144304758 0.00291
NM_176787.5(PIGN):c.1617T>C (p.Tyr539=) rs147306123 0.00282
NM_032634.4(PIGO):c.461C>A (p.Ala154Asp) rs142562923 0.00277
NM_017837.4(PIGV):c.*167G>A rs142176099 0.00264
NM_001127178.3(PIGG):c.1114+8A>G rs182522437 0.00233
NM_004278.4(PIGL):c.*182A>G rs140126036 0.00231
NM_001127178.3(PIGG):c.1254G>A (p.Thr418=) rs139518242 0.00227
NM_015937.6(PIGT):c.675T>C (p.Val225=) rs147475258 0.00193
NM_176787.5(PIGN):c.2503-14T>C rs200850641 0.00187
NM_176787.5(PIGN):c.2751G>T (p.Thr917=) rs200481058 0.00183
NM_001127178.3(PIGG):c.1581C>T (p.Thr527=) rs143989093 0.00179
NM_015937.6(PIGT):c.12T>C (p.Ala4=) rs371353348 0.00172
NM_001127178.3(PIGG):c.1114+15C>T rs200262444 0.00170
NM_001127178.3(PIGG):c.1114+9A>G rs150974506 0.00159
NM_001127178.3(PIGG):c.902-16G>A rs187291662 0.00157
NM_002641.4(PIGA):c.1420G>A (p.Gly474Arg) rs61760986 0.00153
NM_032634.4(PIGO):c.2166G>C (p.Ala722=) rs147101825 0.00143
NM_001127178.3(PIGG):c.2150C>A (p.Ser717Tyr) rs117059276 0.00137
NM_145167.3(PIGM):c.819G>A (p.Pro273=) rs138151842 0.00128
NM_004278.4(PIGL):c.526+10G>A rs138410893 0.00121
NM_176787.5(PIGN):c.2238A>G (p.Ile746Met) rs200658159 0.00117
NM_001127178.3(PIGG):c.2085C>T (p.Ala695=) rs150774662 0.00112
NM_003896.4(ST3GAL5):c.390G>A (p.Ala130=) rs144270260 0.00101
NM_032634.4(PIGO):c.2124G>A (p.Leu708=) rs201657672 0.00095
NM_017837.4(PIGV):c.*149G>A rs3754360 0.00091
NM_001346754.2(PIGW):c.253G>A (p.Gly85Ser) rs117789606 0.00089
NM_145167.3(PIGM):c.999C>T (p.Ser333=) rs187311473 0.00072
NM_176787.5(PIGN):c.2022A>G (p.Leu674=) rs3764491 0.00049
NM_176787.5(PIGN):c.364G>C (p.Glu122Gln) rs200756305 0.00043
NM_002641.4(PIGA):c.525T>C (p.Leu175=) rs61751426 0.00026
NM_001127178.3(PIGG):c.2279G>A (p.Arg760His) rs200170221 0.00022
NM_003896.4(ST3GAL5):c.465G>A (p.Glu155=) rs199590656 0.00022
NM_001127178.3(PIGG):c.588G>A (p.Thr196=) rs149455987 0.00020
NM_002641.4(PIGA):c.273C>T (p.Tyr91=) rs61730284 0.00020
NM_032634.4(PIGO):c.2487G>T (p.Gly829=) rs763623508 0.00019
NM_176787.5(PIGN):c.459C>T (p.His153=) rs376615257 0.00019
NM_176787.5(PIGN):c.963+11C>T rs186152849 0.00018
NM_145167.3(PIGM):c.120C>T (p.Asp40=) rs375538606 0.00016
NM_176787.5(PIGN):c.213G>A (p.Pro71=) rs370553142 0.00014
NM_002641.4(PIGA):c.716-10A>G rs375371562 0.00013
NM_001127178.3(PIGG):c.1594G>C (p.Gly532Arg) rs781714196 0.00012
NM_001127178.3(PIGG):c.2769C>T (p.Tyr923=) rs148579497 0.00012
NM_002641.4(PIGA):c.1214C>T (p.Ala405Val) rs201361742 0.00010
NM_002641.4(PIGA):c.1403A>G (p.Tyr468Cys) rs761613346 0.00010
NM_002641.4(PIGA):c.1188G>A (p.Lys396=) rs754561270 0.00008
NM_002641.4(PIGA):c.384T>C (p.His128=) rs750216116 0.00007
NM_002641.4(PIGA):c.96C>G (p.Thr32=) rs750555194 0.00005
NM_176787.5(PIGN):c.1117-5C>T rs747229315 0.00005
NM_001127178.3(PIGG):c.361-8G>T rs575862015 0.00004
NM_001127178.3(PIGG):c.883G>T (p.Ala295Ser) rs201853289 0.00004
NM_002641.4(PIGA):c.198G>A (p.Lys66=) rs762748091 0.00004
NM_002641.4(PIGA):c.877A>G (p.Lys293Glu) rs202161781 0.00004
NM_002641.4(PIGA):c.981+8G>A rs778602062 0.00004
NM_032634.4(PIGO):c.2198G>A (p.Arg733Gln) rs373305585 0.00004
NM_002641.4(PIGA):c.120C>T (p.Asp40=) rs200475470 0.00003
NM_002641.4(PIGA):c.1421G>T (p.Gly474Val) rs142772459 0.00003
NM_002641.4(PIGA):c.92G>A (p.Arg31His) rs758863767 0.00003
NM_002641.4(PIGA):c.1139T>C (p.Ile380Thr) rs768749706 0.00002
NM_002641.4(PIGA):c.1188+4T>C rs751261624 0.00002
NM_002641.4(PIGA):c.1382G>A (p.Arg461Gln) rs769061128 0.00002
NM_002641.4(PIGA):c.307G>A (p.Ala103Thr) rs777795093 0.00002
NM_002641.4(PIGA):c.369G>A (p.Thr123=) rs766304305 0.00002
NM_002641.4(PIGA):c.43G>A (p.Ala15Thr) rs369608621 0.00002
NM_176787.5(PIGN):c.1748G>A (p.Arg583Gln) rs1244878709 0.00002
NM_002641.4(PIGA):c.1046A>G (p.Glu349Gly) rs1174537633 0.00001
NM_002641.4(PIGA):c.250A>G (p.Thr84Ala) rs768321389 0.00001
NM_002641.4(PIGA):c.879G>A (p.Lys293=) rs777674120 0.00001
NM_001127178.3(PIGG):c.154+11dup rs782776784
NM_001127178.3(PIGG):c.1614+9G>A rs188737876
NM_001127178.3(PIGG):c.1614+9G>C rs188737876
NM_001127178.3(PIGG):c.164C>A (p.Ser55Tyr) rs34120878
NM_001127178.3(PIGG):c.2069+9G>T rs149305291
NM_001127178.3(PIGG):c.759+13G>A rs201035016
NM_001346754.2(PIGW):c.1030T>C (p.Leu344=)
NM_001346754.2(PIGW):c.21G>A (p.Lys7=)
NM_001346754.2(PIGW):c.309C>G (p.Cys103Trp)
NM_002641.4(PIGA):c.1062T>C (p.Ser354=)
NM_002641.4(PIGA):c.1235G>A (p.Arg412Gln) rs1602206653
NM_002641.4(PIGA):c.1426G>A (p.Glu476Lys)
NM_002641.4(PIGA):c.32A>G (p.His11Arg)
NM_002641.4(PIGA):c.34C>T (p.Arg12Cys)
NM_002641.4(PIGA):c.682A>G (p.Ile228Val)
NM_002641.4(PIGA):c.748C>G (p.Leu250Val)
NM_002641.4(PIGA):c.849-20C>T
NM_003896.4(ST3GAL5):c.207-5del
NM_003896.4(ST3GAL5):c.662+17del
NM_003896.4(ST3GAL5):c.662+17dup rs370442067
NM_003896.4(ST3GAL5):c.662+18_662+19del rs369967911
NM_003896.4(ST3GAL5):c.82+18dup
NM_015937.6(PIGT):c.1485-12C>T
NM_015937.6(PIGT):c.33C>T (p.Val11=)
NM_015937.6(PIGT):c.594+36dup rs3092108
NM_017837.4(PIGV):c.-333C>T rs118069986
NM_032634.4(PIGO):c.2520C>T (p.Leu840=) rs537796918
NM_032634.4(PIGO):c.2563A>G (p.Ile855Val)
NM_032634.4(PIGO):c.2854+8del rs756312077
NM_032634.4(PIGO):c.512-17C>T rs2240116
NM_032634.4(PIGO):c.714C>T (p.Gly238=) rs148186264
NM_145167.3(PIGM):c.1042C>T (p.Pro348Ser)
NM_176787.5(PIGN):c.1116+11_1116+12del
NM_176787.5(PIGN):c.1116+12del rs199971157
NM_176787.5(PIGN):c.1116+12dup rs199971157
NM_176787.5(PIGN):c.1117-1= rs9959632
NM_176787.5(PIGN):c.1173-16dup rs747759182
NM_176787.5(PIGN):c.1173-9del
NM_176787.5(PIGN):c.1252-9dup
NM_176787.5(PIGN):c.1408A>T (p.Ile470Leu) rs3862712
NM_176787.5(PIGN):c.1435-15del
NM_176787.5(PIGN):c.2427-20dup rs754102116
NM_176787.5(PIGN):c.2577-13dup rs138671843
NM_176787.5(PIGN):c.2577-5del rs138671843
NM_176787.5(PIGN):c.2620-17_2620-16dup rs11437076
NM_176787.5(PIGN):c.2620-17dup rs11437076
NM_176787.5(PIGN):c.2620-5del rs11437076
NM_176787.5(PIGN):c.922+13_922+16del rs144114585
NM_176787.5(PIGN):c.964-9dup rs2147171105

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