ClinVar Miner

List of variants studied for inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation by OMIM

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_001346754.2(PIGW):c.106A>G (p.Arg36Gly) rs142067039 0.00031
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu) rs139073416 0.00014
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys) rs534438354 0.00013
NM_001127178.3(PIGG):c.2005C>T (p.Arg669Cys) rs372392424 0.00010
NM_176787.5(PIGN):c.548_549+6del rs779636222 0.00010
NM_015937.6(PIGT):c.494-2A>G rs200790673 0.00006
NM_017837.4(PIGV):c.467G>A (p.Cys156Tyr) rs387907023 0.00006
NM_015937.6(PIGT):c.918dup (p.Val307fs) rs751861982 0.00005
NM_033419.5(PGAP3):c.914A>G (p.Asp305Gly) rs587777252 0.00005
NM_004278.4(PIGL):c.427-1G>A rs770084126 0.00004
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp) rs527236031 0.00004
NM_032634.3(PIGO):c.3069+5G>A rs368953604 0.00004
NM_176787.5(PIGN):c.1674+1G>C rs376355678 0.00004
NM_176787.5(PIGN):c.2340T>A (p.Tyr780Ter) rs749334082 0.00004
NM_014489.4(PGAP2):c.46C>T (p.Arg16Trp) rs773359554 0.00003
NM_001127178.3(PIGG):c.2041C>T (p.Arg681Trp) rs899791968 0.00002
NM_001346754.2(PIGW):c.460A>G (p.Arg154Gly) rs1256773607 0.00002
NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter) rs104893668 0.00002
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys) rs778531326 0.00002
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu) rs376328153 0.00002
NM_176787.5(PIGN):c.963G>A (p.Gln321=) rs587777187 0.00002
NM_001127178.3(PIGG):c.1640G>A (p.Trp547Ter) rs547951371 0.00001
NM_001127178.3(PIGG):c.928C>T (p.Gln310Ter) rs869320772 0.00001
NM_003896.4(ST3GAL5):c.601G>A (p.Gly201Arg) rs771732955 0.00001
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val) rs1277383877 0.00001
NM_015937.6(PIGT):c.250G>T (p.Glu84Ter) rs756632799 0.00001
NM_176787.5(PIGN):c.1434+5G>A rs369486176 0.00001
NM_176787.5(PIGN):c.2126G>A (p.Arg709Gln) rs397514475 0.00001
NM_176787.5(PIGN):c.694A>T (p.Lys232Ter) rs886039218 0.00001
NC_000001.11:g.160032009G>C rs587776528
NM_001042616.2(PIGY):c.-540G>A rs869025323
NM_001042616.3(PIGY):c.137T>C (p.Leu46Pro) rs869025322
NM_001127178.3(PIGG):c.2088G>C (p.Glu696Asp) rs1203666288
NM_001127178.3(PIGG):c.2261+1G>C rs869320773
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer) rs771819481
NM_001127178.3(PIGG):c.640C>T (p.His214Tyr) rs2108801356
NM_001346754.2(PIGW):c.178G>A (p.Asp60Asn)
NM_001346754.2(PIGW):c.211A>C (p.Thr71Pro) rs587777733
NM_001346754.2(PIGW):c.462A>T (p.Arg154Ser)
NM_001346754.2(PIGW):c.499A>G (p.Met167Val) rs200024253
NM_001346754.2(PIGW):c.77T>C (p.Leu26Ser)
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter) rs387906726
NM_002641.4(PIGA):c.230G>T (p.Arg77Leu) rs587777398
NM_002641.4(PIGA):c.278C>T (p.Pro93Leu) rs587777400
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp) rs587777396
NM_002641.4(PIGA):c.616A>T (p.Ile206Phe) rs201119959
NM_002641.4(PIGA):c.76dup (p.Tyr26fs) rs587777397
NM_003896.4(ST3GAL5):c.584G>C (p.Cys195Ser) rs886037930
NM_004278.4(PIGL):c.274del (p.Leu92fs) rs758633805
NM_004278.4(PIGL):c.652C>T (p.Gln218Ter) rs139004722
NM_014489.4(PGAP2):c.479A>G (p.Tyr160Cys) rs879255232
NM_014489.4(PGAP2):c.491C>T (p.Thr164Ile) rs587776970
NM_014489.4(PGAP2):c.563T>C (p.Leu188Ser) rs879255233
NM_014489.4(PGAP2):c.713G>C (p.Arg238Pro) rs774843232
NM_015937.6(PIGT):c.1096G>T (p.Gly366Trp) rs571714796
NM_015937.6(PIGT):c.547A>C (p.Thr183Pro) rs587777027
NM_017837.4(PIGV):c.1022C>T (p.Ala341Val) rs139073416
NM_017837.4(PIGV):c.1154A>C (p.His385Pro) rs267606951
NM_017837.4(PIGV):c.766C>A (p.Gln256Lys) rs267606952
NM_032634.4(PIGO):c.2361dup (p.Thr788fs) rs770591449
NM_032634.4(PIGO):c.2869C>T (p.Leu957Phe) rs142164373
NM_033419.5(PGAP3):c.275G>A (p.Gly92Asp) rs587777251
NM_033419.5(PGAP3):c.314C>G (p.Pro105Arg) rs371549948
NM_033419.5(PGAP3):c.439dup (p.Leu147fs) rs869312815
NM_033419.5(PGAP3):c.507C>A (p.Tyr169Ter) rs1567871748
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_033419.5(PGAP3):c.851A>G (p.His284Arg) rs776720232
NM_176787.5(PIGN):c.1966C>T (p.Gln656Ter) rs886039217
NM_176787.5(PIGN):c.324_549+196del
NM_176787.5(PIGN):c.755A>T (p.Asp252Val) rs886039216
NM_176787.5(PIGN):c.808T>C (p.Ser270Pro) rs587777186

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