ClinVar Miner

List of variants in gene combination LOC126860438, NBN reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_002485.5(NBN):c.1893A>G (p.Leu631=) rs778364604 0.00002
NM_002485.5(NBN):c.1914+16T>C rs755194571 0.00002
NM_002485.5(NBN):c.1890A>C (p.Ser630=) rs587780778 0.00001
NM_002485.5(NBN):c.1902T>G (p.Ala634=) rs876660052 0.00001
NM_002485.5(NBN):c.1846-10A>G rs2129660939
NM_002485.5(NBN):c.1846-10A>T rs2129660939
NM_002485.5(NBN):c.1846-11_1846-7del rs1060504925
NM_002485.5(NBN):c.1846-12T>C
NM_002485.5(NBN):c.1846-14T>C rs2129661007
NM_002485.5(NBN):c.1846-6C>T rs1586043853
NM_002485.5(NBN):c.1846-7T>C
NM_002485.5(NBN):c.1846-7T>G rs2129660876
NM_002485.5(NBN):c.1846-9T>C rs1554556966
NM_002485.5(NBN):c.1851A>G (p.Glu617=)
NM_002485.5(NBN):c.1854T>C (p.Asn618=) rs2129660657
NM_002485.5(NBN):c.1860T>C (p.Ile620=) rs1060504927
NM_002485.5(NBN):c.1863G>A (p.Gly621=) rs773909162
NM_002485.5(NBN):c.1869A>G (p.Lys623=) rs2129660412
NM_002485.5(NBN):c.1884A>G (p.Glu628=) rs771709611
NM_002485.5(NBN):c.1891C>G (p.Leu631Val) rs1064793477
NM_002485.5(NBN):c.1891C>T (p.Leu631=) rs1064793477
NM_002485.5(NBN):c.1902T>C (p.Ala634=) rs876660052
NM_002485.5(NBN):c.1908A>G (p.Glu636=)
NM_002485.5(NBN):c.1914+11T>C
NM_002485.5(NBN):c.1914+13T>A
NM_002485.5(NBN):c.1914+14T>C
NM_002485.5(NBN):c.1914+16_1914+18del rs1437396256
NM_002485.5(NBN):c.1914+17T>C rs1275235372
NM_002485.5(NBN):c.1914+18A>G rs2129659249
NM_002485.5(NBN):c.1914+18_1914+21del rs773894616
NM_002485.5(NBN):c.1914+19A>C rs2129659201
NM_002485.5(NBN):c.1914+20T>G rs1459013677
NM_002485.5(NBN):c.1914+7A>T
NM_002485.5(NBN):c.1914+8A>G rs2129659430

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