ClinVar Miner

List of variants in gene PIGO reported as pathogenic for inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_032634.4(PIGO):c.364C>T (p.Arg122Ter) rs375682284 0.00007
NM_032634.3(PIGO):c.3069+5G>A rs368953604 0.00004
NM_032634.4(PIGO):c.1087C>T (p.Gln363Ter) rs1829507609 0.00001
NM_032634.4(PIGO):c.1222C>T (p.Gln408Ter) rs750636989 0.00001
NM_032634.4(PIGO):c.163C>T (p.Gln55Ter) rs1829625950 0.00001
NM_032634.4(PIGO):c.511G>T (p.Gly171Ter) rs1247927038 0.00001
NM_032634.4(PIGO):c.773del (p.Val258fs) rs765723177 0.00001
NM_032634.4(PIGO):c.1114C>T (p.Gln372Ter)
NM_032634.4(PIGO):c.1126C>T (p.Arg376Ter)
NM_032634.4(PIGO):c.1184del (p.Gln395fs)
NM_032634.4(PIGO):c.1187del (p.Leu396fs) rs1657564568
NM_032634.4(PIGO):c.1189C>T (p.Gln397Ter)
NM_032634.4(PIGO):c.1271_1272del (p.Val424fs) rs1563998317
NM_032634.4(PIGO):c.1329G>A (p.Trp443Ter) rs2131077198
NM_032634.4(PIGO):c.1348del (p.Arg450fs)
NM_032634.4(PIGO):c.135dup (p.Gly46fs) rs1287376106
NM_032634.4(PIGO):c.1361del (p.Gly454fs)
NM_032634.4(PIGO):c.1361dup (p.Thr455fs)
NM_032634.4(PIGO):c.1445_1449del (p.Leu482fs) rs1209271799
NM_032634.4(PIGO):c.1549del (p.Ala517fs) rs1587166550
NM_032634.4(PIGO):c.178del (p.Ala60fs) rs1378962389
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_032634.4(PIGO):c.1841dup (p.Arg615fs)
NM_032634.4(PIGO):c.1923C>A (p.Cys641Ter)
NM_032634.4(PIGO):c.1942del (p.Cys648fs) rs2131075608
NM_032634.4(PIGO):c.1959G>A (p.Trp653Ter) rs1391418639
NM_032634.4(PIGO):c.196C>T (p.Arg66Ter) rs763992668
NM_032634.4(PIGO):c.2007G>A (p.Trp669Ter) rs1563996824
NM_032634.4(PIGO):c.204dup (p.Arg69fs) rs751086453
NM_032634.4(PIGO):c.2117G>A (p.Trp706Ter)
NM_032634.4(PIGO):c.2191del (p.Arg731fs) rs760848629
NM_032634.4(PIGO):c.2191dup (p.Arg731fs) rs760848629
NM_032634.4(PIGO):c.2217del (p.Ser740fs)
NM_032634.4(PIGO):c.2257del (p.Ser753fs) rs2131074579
NM_032634.4(PIGO):c.2279G>A (p.Trp760Ter)
NM_032634.4(PIGO):c.2360_2363del (p.Pro787fs) rs2131074060
NM_032634.4(PIGO):c.2361dup (p.Thr788fs) rs770591449
NM_032634.4(PIGO):c.2368C>T (p.Gln790Ter)
NM_032634.4(PIGO):c.2397A>C (p.Gln799His) rs1587162510
NM_032634.4(PIGO):c.2404C>T (p.Arg802Ter) rs1199247059
NM_032634.4(PIGO):c.2413C>T (p.Gln805Ter)
NM_032634.4(PIGO):c.2435T>G (p.Leu812Ter) rs746967719
NM_032634.4(PIGO):c.2442_2457del (p.Arg814fs)
NM_032634.4(PIGO):c.2602_2605del (p.Leu868fs) rs2131073372
NM_032634.4(PIGO):c.2725C>T (p.Gln909Ter) rs1829372756
NM_032634.4(PIGO):c.2869C>T (p.Leu957Phe) rs142164373
NM_032634.4(PIGO):c.28del (p.Leu10fs)
NM_032634.4(PIGO):c.2921del (p.Gln974fs) rs1829352034
NM_032634.4(PIGO):c.2953A>T (p.Arg985Ter)
NM_032634.4(PIGO):c.3067C>T (p.Gln1023Ter)
NM_032634.4(PIGO):c.309del (p.Lys103fs)
NM_032634.4(PIGO):c.322C>T (p.Gln108Ter)
NM_032634.4(PIGO):c.327_336del (p.Ile110fs)
NM_032634.4(PIGO):c.36G>A (p.Trp12Ter)
NM_032634.4(PIGO):c.438del (p.Phe146fs) rs1587176440
NM_032634.4(PIGO):c.445dup (p.Ala149fs)
NM_032634.4(PIGO):c.505dup (p.Ser169fs)
NM_032634.4(PIGO):c.589_590del (p.Pro197fs) rs763591247
NM_032634.4(PIGO):c.590del (p.Pro197fs) rs763591247
NM_032634.4(PIGO):c.894_895del (p.Phe299fs)
NM_032634.4(PIGO):c.91dup (p.Thr31fs) rs1587178357
NM_032634.4(PIGO):c.985del (p.Leu329fs)

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