ClinVar Miner

List of variants in gene combination LOC126860438, NBN reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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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.1848A>G (p.Gln616=) rs587782269 0.00001
NM_002485.5(NBN):c.1856A>C (p.Glu619Ala) rs763546746 0.00001
NM_002485.5(NBN):c.1858A>G (p.Ile620Val) rs1810270999 0.00001
NM_002485.5(NBN):c.1865A>G (p.Lys622Arg) rs1381148233 0.00001
NM_002485.5(NBN):c.1866G>C (p.Lys622Asn) rs587782221 0.00001
NM_002485.5(NBN):c.1873G>A (p.Glu625Lys) rs369049359 0.00001
NM_002485.5(NBN):c.1877T>G (p.Leu626Arg) rs1237629649 0.00001
NM_002485.5(NBN):c.1888T>C (p.Ser630Pro) rs377132067 0.00001
NM_002485.5(NBN):c.1910T>A (p.Ile637Lys) rs876658613 0.00001
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro) rs199657566 0.00001
NC_000008.10:g.(?_90945564)_(90971082_?)dup
NC_000008.10:g.(?_90947800)_(90971092_?)dup
NM_002485.5(NBN):c.1846-13T>A rs1810272926
NM_002485.5(NBN):c.1846-16T>A
NM_002485.5(NBN):c.1846-17_1846-11del
NM_002485.5(NBN):c.1846-3T>C rs1810272337
NM_002485.5(NBN):c.1846-5_1846-2dup rs1554556962
NM_002485.5(NBN):c.1849G>C (p.Glu617Gln) rs766602873
NM_002485.5(NBN):c.1851A>C (p.Glu617Asp) rs1660299603
NM_002485.5(NBN):c.1861G>A (p.Gly621Arg) rs1810270617
NM_002485.5(NBN):c.1868A>G (p.Lys623Arg) rs1810269932
NM_002485.5(NBN):c.1870C>A (p.Arg624Ser)
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.1871G>T (p.Arg624Leu) rs587782297
NM_002485.5(NBN):c.1871_1873del (p.Arg624_Glu625delinsGln) rs1554556932
NM_002485.5(NBN):c.1874A>C (p.Glu625Ala)
NM_002485.5(NBN):c.1874A>G (p.Glu625Gly) rs1554556929
NM_002485.5(NBN):c.1880A>G (p.Lys627Arg) rs762174459
NM_002485.5(NBN):c.1880A>T (p.Lys627Met) rs762174459
NM_002485.5(NBN):c.1881G>T (p.Lys627Asn) rs2129660206
NM_002485.5(NBN):c.1885G>A (p.Asp629Asn) rs745559078
NM_002485.5(NBN):c.1885G>T (p.Asp629Tyr) rs745559078
NM_002485.5(NBN):c.1886A>C (p.Asp629Ala) rs1586043675
NM_002485.5(NBN):c.1886A>G (p.Asp629Gly) rs1586043675
NM_002485.5(NBN):c.1889C>T (p.Ser630Leu) rs1810267412
NM_002485.5(NBN):c.1891C>G (p.Leu631Val) rs1064793477
NM_002485.5(NBN):c.1892T>C (p.Leu631Pro)
NM_002485.5(NBN):c.1894T>C (p.Trp632Arg) rs1586043635
NM_002485.5(NBN):c.1896G>T (p.Trp632Cys) rs1221760506
NM_002485.5(NBN):c.1897T>G (p.Ser633Ala)
NM_002485.5(NBN):c.1898C>T (p.Ser633Leu) rs1554556897
NM_002485.5(NBN):c.1900G>A (p.Ala634Thr) rs1554556892
NM_002485.5(NBN):c.1903A>G (p.Lys635Glu) rs587782545
NM_002485.5(NBN):c.1908A>C (p.Glu636Asp) rs1563516272
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter) rs1563516254
NM_002485.5(NBN):c.1911A>G (p.Ile637Met) rs372877871
NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr) rs756036331
NM_002485.5(NBN):c.1914+3G>A rs1554556878
NM_002485.5(NBN):c.1914+5G>A rs1586043509

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