ClinVar Miner

List of variants in gene AP4M1 studied for Inborn genetic diseases

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_004722.4(AP4M1):c.544-6T>G rs372511561 0.00046
NM_004722.4(AP4M1):c.380C>T (p.Thr127Met) rs147261925 0.00023
NM_004722.4(AP4M1):c.514C>T (p.Arg172Cys) rs141174349 0.00007
NM_004722.4(AP4M1):c.847C>T (p.Arg283Trp) rs575096086 0.00006
NM_004722.4(AP4M1):c.1318G>C (p.Val440Leu) rs775699151 0.00002
NM_004722.4(AP4M1):c.1346A>G (p.Tyr449Cys) rs754456635 0.00002
NM_004722.4(AP4M1):c.129C>A (p.Asp43Glu) rs760835879 0.00001
NM_004722.4(AP4M1):c.860C>T (p.Ser287Phe) rs774646136 0.00001
NM_004722.4(AP4M1):c.890G>A (p.Arg297Gln) rs768778642 0.00001
NM_004722.4(AP4M1):c.104G>T (p.Arg35Leu)
NM_004722.4(AP4M1):c.1137+6C>T
NM_004722.4(AP4M1):c.1145T>C (p.Val382Ala)
NM_004722.4(AP4M1):c.1326C>G (p.His442Gln)
NM_004722.4(AP4M1):c.1355G>A (p.Arg452Gln)
NM_004722.4(AP4M1):c.19A>C (p.Ile7Leu)
NM_004722.4(AP4M1):c.220G>A (p.Val74Ile) rs377178447
NM_004722.4(AP4M1):c.29C>T (p.Ser10Phe)
NM_004722.4(AP4M1):c.428C>T (p.Pro143Leu)
NM_004722.4(AP4M1):c.678G>A (p.Met226Ile)
NM_004722.4(AP4M1):c.727G>A (p.Gly243Ser) rs1554380093
NM_004722.4(AP4M1):c.742A>G (p.Ile248Val)
NM_004722.4(AP4M1):c.86T>C (p.Val29Ala)

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