ClinVar Miner

List of variants in gene GPAA1 reported as likely pathogenic by SIB Swiss Institute of Bioinformatics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser) rs782220208 0.00002
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.869T>C (p.Leu290Pro) rs1554764058
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro) rs1010907740

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