List of variants in gene BLOC1S3 reported as pathogenic for blood coagulation disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_212550.5(BLOC1S3):c.131C>A (p.Ser44Ter)	rs281865115	0.00003
NM_212550.5(BLOC1S3):c.101C>A (p.Ser34Ter)	rs567410388
NM_212550.5(BLOC1S3):c.338_341del (p.Leu113fs)	rs1568469902
NM_212550.5(BLOC1S3):c.385_403del (p.Ser129fs)	rs1969482515
NM_212550.5(BLOC1S3):c.444_467del (p.Gln150_Ala157del)	rs754841982
NM_212550.5(BLOC1S3):c.448del (p.Gln150fs)	rs281865116

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