ClinVar Miner

List of variants in gene PGAP2 studied for congenital limb malformation

Included ClinVar conditions (336):
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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_014489.4(PGAP2):c.46C>T (p.Arg16Trp) rs773359554 0.00003
NM_014489.4(PGAP2):c.349-910C>A rs773988754 0.00002
NM_001346397.2(PGAP2):c.10A>G (p.Ile4Val) rs1362392252 0.00001
NM_014489.4(PGAP2):c.646G>A (p.Gly216Arg) rs1064797152 0.00001
NM_014489.4(PGAP2):c.881C>T (p.Thr294Met) rs747658866 0.00001
NM_014489.4(PGAP2):c.146C>T (p.Thr49Ile)
NM_014489.4(PGAP2):c.1A>G (p.Met1Val) rs1409597701
NM_014489.4(PGAP2):c.2T>G (p.Met1Arg) rs1590215915
NM_014489.4(PGAP2):c.380C>T (p.Ala127Val) rs752346360
NM_014489.4(PGAP2):c.391G>T (p.Glu131Ter) rs1590414630
NM_014489.4(PGAP2):c.391dup (p.Glu131fs) rs1590414565
NM_014489.4(PGAP2):c.392A>G (p.Glu131Gly) rs533117826
NM_014489.4(PGAP2):c.395T>G (p.Val132Gly) rs551147697
NM_014489.4(PGAP2):c.449T>C (p.Phe150Ser) rs1590416370
NM_014489.4(PGAP2):c.479A>G (p.Tyr160Cys) rs879255232
NM_014489.4(PGAP2):c.491C>T (p.Thr164Ile) rs587776970
NM_014489.4(PGAP2):c.530A>G (p.Asn177Ser) rs377757894
NM_014489.4(PGAP2):c.563T>C (p.Leu188Ser) rs879255233
NM_014489.4(PGAP2):c.615T>A (p.Asn205Lys)
NM_014489.4(PGAP2):c.657C>T (p.Leu219=)
NM_014489.4(PGAP2):c.713G>C (p.Arg238Pro) rs774843232
NM_014489.4(PGAP2):c.737G>T (p.Arg246Leu)

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