ClinVar Miner

List of variants in gene GPAA1 reported as uncertain significance for developmental defect during embryogenesis

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003801.4(GPAA1):c.1622+3A>G rs146686863 0.00196
NM_003801.4(GPAA1):c.1268G>A (p.Gly423Glu) rs200528951 0.00026
NM_003801.4(GPAA1):c.541G>A (p.Val181Ile) rs199578024 0.00012
NM_003801.4(GPAA1):c.1598C>T (p.Ala533Val) rs200059746 0.00009
NM_003801.4(GPAA1):c.1658C>T (p.Pro553Leu) rs372282426 0.00005
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys) rs200581623 0.00004
NM_003801.4(GPAA1):c.1723G>T (p.Ala575Ser) rs781814383 0.00001
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly) rs922800309 0.00001
NM_003801.4(GPAA1):c.1051G>C (p.Glu351Gln) rs2129945017
NM_003801.4(GPAA1):c.160_161delinsAA (p.Ala54Asn) rs1554763777
NM_003801.4(GPAA1):c.1621C>T (p.Arg541Trp)
NM_003801.4(GPAA1):c.499G>C (p.Ala167Pro)
NM_003801.4(GPAA1):c.578A>G (p.Glu193Gly)

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