ClinVar Miner

List of variants studied for disorder of GPI anchor biosynthesis by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) rs115209243 0.00031
NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser) rs782220208 0.00002
NM_033198.4(PIGS):c.108G>A (p.Trp36Ter) rs1263517814 0.00001
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro) rs1553259602 0.00001
NM_003801.4(GPAA1):c.1165G>C (p.Ala389Pro) rs782768127
NM_003801.4(GPAA1):c.152C>T (p.Ser51Leu) rs1554763770
NM_003801.4(GPAA1):c.160_161delinsAA (p.Ala54Asn) rs1554763777
NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro) rs1554764058
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro) rs1010907740
NM_033198.4(PIGS):c.101T>C (p.Leu34Pro) rs1567618413
NM_033198.4(PIGS):c.923A>G (p.Glu308Gly) rs1426262136
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp) rs1553259614

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