ClinVar Miner

List of variants studied for inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation by Genome-Nilou Lab

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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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_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_176787.5(PIGN):c.1023+18A>G rs12608212 0.31260
NM_176787.5(PIGN):c.2502+49A>G rs1560502 0.28608
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.2095G>A (p.Val699Ile) rs13114026 0.15552
NM_015937.6(PIGT):c.594+36dup rs3092108

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