ClinVar Miner

List of variants in gene NBN reported by University of Washington Department of Laboratory Medicine, University of Washington

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.703-108T>C rs77265692 0.00679
NM_002485.5(NBN):c.1398-203G>A rs139084367 0.00586
NM_002485.5(NBN):c.702+84G>C rs104895036 0.00405
NM_002485.5(NBN):c.2234+604C>T rs183379987 0.00299
NM_002485.5(NBN):c.2185-2624A>G rs543830385 0.00155
NM_002485.5(NBN):c.584+3101G>A rs192989840 0.00120
NM_002485.5(NBN):c.1914+744A>C rs748941907 0.00032
NM_002485.5(NBN):c.584+3089G>T rs184109078 0.00032
NM_002485.5(NBN):c.2185-1935A>G rs558544629 0.00029
NM_002485.5(NBN):c.994+2191G>A rs192117512 0.00029
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_002485.5(NBN):c.585-43C>T rs374846411 0.00013
NM_002485.5(NBN):c.995-472A>G rs189181666 0.00002
NM_002485.5(NBN):c.171+125T>C rs869312607 0.00001
NM_002485.5(NBN):c.1915-627A>G rs869312605 0.00001
NM_002485.5(NBN):c.480+248G>A rs869312610 0.00001
NM_002485.5(NBN):c.2185-2623A>G rs869312606
NM_002485.5(NBN):c.321-209C>T rs869312609
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.994+2090C>G rs869312608

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