List of variants in gene combination LOC126860438, NBN reported as uncertain significance for anemia

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys)	rs766602873	0.00002
NM_002485.5(NBN):c.1871G>A (p.Arg624His)	rs587782297	0.00002
NM_002485.5(NBN):c.1846-1G>A	rs61753717
NM_002485.5(NBN):c.1851A>C (p.Glu617Asp)	rs1660299603
NM_002485.5(NBN):c.1870C>G (p.Arg624Gly)	rs962092255
NM_002485.5(NBN):c.1870C>T (p.Arg624Cys)	rs962092255
NM_002485.5(NBN):c.1894T>C (p.Trp632Arg)	rs1586043635
NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr)	rs756036331
NM_002485.5(NBN):c.1914+2_1914+3del	rs1586043528

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