ClinVar Miner

List of variants studied for inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation by Revvity Omics, Revvity

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_033419.5(PGAP3):c.477G>C (p.Arg159Ser) rs150483675 0.00074
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile) rs139155910 0.00024
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu) rs202146344 0.00017
NM_032634.4(PIGO):c.1132C>T (p.Leu378Phe) rs746870615 0.00016
NM_017837.4(PIGV):c.428A>G (p.His143Arg) rs371892825 0.00010
NM_176787.5(PIGN):c.548_549+6del rs779636222 0.00010
NM_176787.5(PIGN):c.1766A>G (p.Lys589Arg) rs775932562 0.00009
NM_033419.5(PGAP3):c.827C>T (p.Pro276Leu) rs750093817 0.00007
NM_017837.4(PIGV):c.808C>T (p.Arg270Cys) rs374158705 0.00006
NM_176787.5(PIGN):c.2284-1G>C rs760977825 0.00006
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521 0.00005
NM_032634.3(PIGO):c.3069+5G>A rs368953604 0.00004
NM_176787.5(PIGN):c.170A>G (p.Asp57Gly) rs745318716 0.00003
NM_176787.5(PIGN):c.959A>G (p.Asn320Ser) rs936914222 0.00003
NM_003896.4(ST3GAL5):c.282del (p.Met94fs) rs1383734078 0.00002
NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter) rs104893668 0.00002
NM_033419.5(PGAP3):c.109G>T (p.Glu37Ter) rs1242562412 0.00002
NM_014489.4(PGAP2):c.881C>T (p.Thr294Met) rs747658866 0.00001
NM_033419.5(PGAP3):c.694+1G>A rs144574243 0.00001
NM_001346754.2(PIGW):c.439G>A (p.Val147Met)
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser) rs367638648
NM_003896.4(ST3GAL5):c.353del (p.Lys118fs) rs754643632
NM_003896.4(ST3GAL5):c.651TGT[1] (p.Val219del)
NM_003896.4(ST3GAL5):c.850-1G>A rs2103936382
NM_004278.4(PIGL):c.494+1G>A rs2142864883
NM_017837.4(PIGV):c.320G>T (p.Gly107Val)
NM_017837.4(PIGV):c.452C>T (p.Ala151Val)
NM_032634.4(PIGO):c.1600G>A (p.Gly534Arg)
NM_033419.5(PGAP3):c.455G>A (p.Trp152Ter) rs2057353041
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_176787.5(PIGN):c.2018G>A (p.Ser673Asn)
NM_176787.5(PIGN):c.2089G>T (p.Val697Phe) rs763127430
NM_176787.5(PIGN):c.2737C>T (p.Gln913Ter)
NM_176787.5(PIGN):c.407G>A (p.Trp136Ter) rs1215392490
NM_176787.5(PIGN):c.532G>A (p.Val178Ile)
NM_176787.5(PIGN):c.674+1G>A rs1555694770
NM_176787.5(PIGN):c.754G>T (p.Asp252Tyr)

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