ClinVar Miner

List of variants studied for inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_032634.4(PIGO):c.1120-15C>A rs77344591 0.00631
NM_017837.4(PIGV):c.101C>T (p.Pro34Leu) rs139246652 0.00505
NM_015937.6(PIGT):c.969C>T (p.Thr323=) rs116312756 0.00428
NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser) rs559756386 0.00354
NM_001127178.3(PIGG):c.2204G>A (p.Arg735Gln) rs138345843 0.00287
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu) rs147316771 0.00093
NM_017837.4(PIGV):c.*149G>A rs3754360 0.00091
NM_004278.4(PIGL):c.337G>T (p.Asp113Tyr) rs114670807 0.00083
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe) rs143676075 0.00068
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_003896.4(ST3GAL5):c.1247G>T (p.Arg416Leu) rs200683924 0.00028
NM_002641.4(PIGA):c.525T>C (p.Leu175=) rs61751426 0.00026
NM_032634.4(PIGO):c.2705C>G (p.Thr902Ser) rs372802683 0.00016
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu) rs139073416 0.00014
NM_017837.4(PIGV):c.473G>A (p.Ser158Asn) rs201332799 0.00014
NM_032634.4(PIGO):c.257A>G (p.Gln86Arg) rs112670103 0.00007
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_032634.4(PIGO):c.1662G>A (p.Leu554=) rs369433160 0.00006
NM_017837.4(PIGV):c.115G>A (p.Glu39Lys) rs369275802 0.00005
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521 0.00005
NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter) rs104893668 0.00002
NM_032634.4(PIGO):c.1723T>G (p.Phe575Val) rs769087057 0.00002
NM_003896.4(ST3GAL5):c.147G>A (p.Trp49Ter) rs778265926 0.00001
NM_003896.4(ST3GAL5):c.70C>T (p.Pro24Ser) rs952271385 0.00001
NM_032634.4(PIGO):c.1046C>T (p.Ser349Leu) rs371657025 0.00001
NM_032634.4(PIGO):c.448G>A (p.Gly150Ser) rs774734630 0.00001
NM_176787.5(PIGN):c.1434+5G>A rs369486176 0.00001
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter) rs768412580 0.00001
NM_176787.5(PIGN):c.694A>T (p.Lys232Ter) rs886039218 0.00001
NM_002641.4(PIGA):c.1048C>T (p.Pro350Ser) rs372966902
NM_003896.4(ST3GAL5):c.124del (p.Cys42fs) rs777319882
NM_003896.4(ST3GAL5):c.1255T>C (p.Ter419Arg) rs1681835024
NM_003896.4(ST3GAL5):c.839dup (p.Glu281fs)
NM_004278.4(PIGL):c.593C>T (p.Pro198Leu)
NM_015937.6(PIGT):c.1252C>G (p.Pro418Ala)
NM_017837.4(PIGV):c.348_349delinsAG (p.Ile117Val) rs886044116
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_032634.4(PIGO):c.2191dup (p.Arg731fs) rs760848629
NM_032634.4(PIGO):c.2869C>T (p.Leu957Phe) rs142164373
NM_032634.4(PIGO):c.3107G>A (p.Arg1036Lys) rs764658486
NM_176787.5(PIGN):c.1247_1251del (p.Glu416fs) rs1444518753
NM_176787.5(PIGN):c.1434_1434+1delinsAA rs886041514
NM_176787.5(PIGN):c.1519_1523delinsTTTG (p.Thr507fs)
NM_176787.5(PIGN):c.1675-1G>T rs772411133
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu) rs201835155
NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter) rs376226764
NM_176787.5(PIGN):c.2125C>T (p.Arg709Ter)
NM_176787.5(PIGN):c.2180+1G>C rs1568169374
NM_176787.5(PIGN):c.222-1G>A
NM_176787.5(PIGN):c.2371-1G>C
NM_176787.5(PIGN):c.465T>A (p.Tyr155Ter)
NM_176787.5(PIGN):c.654T>G (p.His218Gln) rs1035743375
NM_176787.5(PIGN):c.806-2A>T

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