ClinVar Miner

List of variants in gene SERPINF1 reported as pathogenic for not provided

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002615.7(SERPINF1):c.295C>T (p.Arg99Ter) rs1085307634 0.00001
NM_002615.7(SERPINF1):c.907C>T (p.Arg303Ter) rs763291398 0.00001
NC_000017.10:g.(?_1670205)_(1675389_?)del
NC_000017.10:g.(?_1673126)_(1673364_?)del
NC_000017.10:g.(?_1679209)_(1680740_?)del
NM_002615.7(SERPINF1):c.1008del (p.Leu337fs)
NM_002615.7(SERPINF1):c.1024del (p.Asp342fs) rs2151213387
NM_002615.7(SERPINF1):c.1069del (p.Glu357fs)
NM_002615.7(SERPINF1):c.1096G>T (p.Glu366Ter)
NM_002615.7(SERPINF1):c.1152_1170del (p.Phe384fs) rs869312908
NM_002615.7(SERPINF1):c.349_356dup (p.His119fs) rs762554291
NM_002615.7(SERPINF1):c.482C>A (p.Ser161Ter)
NM_002615.7(SERPINF1):c.498_499del (p.Arg167fs)
NM_002615.7(SERPINF1):c.553C>T (p.Gln185Ter)
NM_002615.7(SERPINF1):c.604dup (p.Glu202fs)
NM_002615.7(SERPINF1):c.620T>G (p.Leu207Arg) rs967535162
NM_002615.7(SERPINF1):c.653del (p.Val218fs) rs398122520
NM_002615.7(SERPINF1):c.734C>A (p.Ser245Ter)
NM_002615.7(SERPINF1):c.77del (p.Pro26fs) rs1272920425
NM_002615.7(SERPINF1):c.826TTC[1] (p.Phe277del) rs773952734
NM_002615.7(SERPINF1):c.843del (p.Lys281_Val282insTer)
NM_002615.7(SERPINF1):c.925C>T (p.Gln309Ter) rs2151212936

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