ClinVar Miner

List of variants studied for blood coagulation disease by Lifecell International Pvt. Ltd

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_000132.4(F8):c.5999-11G>A rs782132907 0.00002
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_022081.6(HPS4):c.133-2A>T

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