ClinVar Miner

List of variants studied for Congenital factor VII deficiency by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.-48C>A rs549591993
NM_019616.4(F7):c.1145G>A (p.Ser382Asn)
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.445T>C (p.Ser149Pro)
NM_019616.4(F7):c.[179G>T;190_191delinsTT]

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