ClinVar Miner

List of variants studied for peeling skin syndrome 6

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001014342.3(FLG2):c.3101_3104del (p.Gln1034fs) rs556285121 0.00074
NM_001014342.3(FLG2):c.632C>G (p.Ser211Ter) rs1050823116 0.00003
NM_001014342.3(FLG2):c.1065T>A (p.Tyr355Ter) rs1553219199
NM_001014342.3(FLG2):c.2595_2825del (p.Ser869_Thr945del) rs1557898235
NM_001014342.3(FLG2):c.2837T>C (p.Phe946Ser)
NM_001014342.3(FLG2):c.781C>T (p.Gln261Ter)

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