ClinVar Miner

List of variants studied for Pettigrew syndrome

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Total variants: 11
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HGVS dbSNP
NM_001272071.2(AP1S2):c.-1+1G>A
NM_001272071.2(AP1S2):c.1-3C>A rs1060499672
NM_001272071.2(AP1S2):c.106C>T (p.Gln36Ter) rs104894739
NM_001272071.2(AP1S2):c.154C>T (p.Arg52Ter) rs104894735
NM_001272071.2(AP1S2):c.180-5_180-2del rs587776738
NM_001272071.2(AP1S2):c.226G>T (p.Glu76Ter) rs137852213
NM_001272071.2(AP1S2):c.281del (p.Phe94fs) rs1555904182
NM_001272071.2(AP1S2):c.288+5G>A rs587776739
NM_001272071.2(AP1S2):c.321_334del (p.Glu107fs)
NM_001272071.2(AP1S2):c.426+1G>T rs587777542
NM_003588.3(CUL4B):c.2687G>A (p.Arg896Gln) rs1556173896

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