ClinVar Miner

List of variants studied for hemophilia A by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (4):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)	rs28933673	0.00014
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln)	rs781876217	0.00003
NM_000132.4(F8):c.5453dup (p.Ala1819fs)
NM_000132.4(F8):c.5587-93C>T	rs1264918703
NM_000132.4(F8):c.984T>G (p.Phe328Leu)	rs782668199

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