ClinVar Miner

List of variants reported as likely benign for congenital factor XIII deficiency by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000129.3(F13A1):c.*112G>T rs3024463
NM_000129.3(F13A1):c.*443G>A rs3024486
NM_000129.3(F13A1):c.-18-5dup rs750373197
NM_000129.3(F13A1):c.1704A>G (p.Glu568=) rs5986
NM_000129.4(F13A1):c.1184C>T (p.Ala395Val)
NM_000129.4(F13A1):c.1689G>A (p.Gly563=) rs58315745
NM_000129.4(F13A1):c.614A>T (p.Tyr205Phe)
NM_001994.2(F13B):c.*89G>C rs17549873
NM_001994.2(F13B):c.1707T>G (p.Asp569Glu) rs6000

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