ClinVar Miner

List of variants studied for Dowling-Degos disease 4

Included ClinVar conditions (2):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_152305.3(POGLUT1):c.457-25G>A rs4688007 0.81878
NM_152305.3(POGLUT1):c.456+39G>T rs3732419 0.59327
NM_152305.3(POGLUT1):c.733A>G (p.Met245Val) rs368566548 0.00020
NM_152305.3(POGLUT1):c.11G>A (p.Trp4Ter) rs587777293 0.00001
NM_152305.3(POGLUT1):c.652C>T (p.Arg218Ter) rs587777294 0.00001
NM_152305.3(POGLUT1):c.798-2A>C rs587777295 0.00001
NM_152305.3(POGLUT1):c.835C>T (p.Arg279Trp) rs587777297 0.00001
NM_152305.3(POGLUT1):c.835dup (p.Arg279fs) rs587777296

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