List of variants in gene BLM reported as likely pathogenic by Natera, Inc.

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.3210+2del	rs587779886	0.00003
NM_000057.4(BLM):c.2663-1G>C	rs1444037196	0.00001
NM_000057.4(BLM):c.2824-2A>T	rs745538883	0.00001
NM_000057.4(BLM):c.3875-2A>G	rs150421256	0.00001
NM_000057.4(BLM):c.2193+1G>A	rs865866188
NM_000057.4(BLM):c.2193+1_2193+9del	rs1060500652
NM_000057.4(BLM):c.2556-1G>T	rs1896650174
NM_000057.4(BLM):c.2662+2T>C	rs1567052324
NM_000057.4(BLM):c.3559-1G>A	rs1555424368
NM_000057.4(BLM):c.799+1G>T	rs1895641581
NM_000057.4(BLM):c.959+1_959+9del	rs765061205
NM_000057.4(BLM):c.960-1G>A	rs1596223715
NM_000057.4(BLM):c.960-1G>T	rs1596223715
NM_000057.4(BLM):c.98+1G>A	rs750293380

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