ClinVar Miner

List of variants in gene AP1S2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001272071.2(AP1S2):c.289-8C>T rs770199415 0.00016
NM_001272071.2(AP1S2):c.-12C>T
NM_001272071.2(AP1S2):c.108G>A (p.Gln36=)
NM_001272071.2(AP1S2):c.112G>A (p.Val38Ile)
NM_001272071.2(AP1S2):c.178dup (p.Arg60fs) rs1934205000
NM_001272071.2(AP1S2):c.240G>A (p.Leu80=)
NM_001272071.2(AP1S2):c.288+5G>A rs587776739

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