ClinVar Miner

List of variants in gene combination LOC122149309, LOC126805923, LOC126805924, LOC129388636, LOC129388637, LOC129388638, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, RABGAP1L, RABGAP1L-DT, RC3H1, RC3H1-DT, SERPINC1, ZBTB37 reported as pathogenic for hereditary antithrombin deficiency

Included ClinVar conditions (1):

Hereditary antithrombin deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NC_000001.11:g.173878539_174421154del
NC_000001.11:g.173881395_174342043del
NC_000001.11:g.173884504_174418717del

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