ClinVar Miner

Variants in gene NBAS with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 25
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HGVS dbSNP gnomAD frequency
NM_015909.4(NBAS):c.4822A>G (p.Met1608Val) rs140868609 0.00268
NM_015909.4(NBAS):c.4358G>A (p.Cys1453Tyr) rs148644578 0.00147
NM_015909.4(NBAS):c.4228A>G (p.Thr1410Ala) rs143724414 0.00097
NM_015909.4(NBAS):c.3361-19A>G rs201607999 0.00075
NM_015909.4(NBAS):c.5465A>C (p.Asn1822Thr) rs199717686 0.00049
NM_015909.4(NBAS):c.5467A>T (p.Ile1823Phe) rs201084909 0.00047
NM_015909.4(NBAS):c.5984G>A (p.Arg1995Gln) rs140373332 0.00034
NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys) rs143212851 0.00017
NM_015909.4(NBAS):c.5983C>G (p.Arg1995Gly) rs767134813 0.00016
NM_015909.4(NBAS):c.6827C>T (p.Thr2276Met) rs144615326 0.00010
NM_015909.4(NBAS):c.1438T>C (p.Ser480Pro) rs140555177 0.00009
NM_015909.4(NBAS):c.4302T>C (p.Asp1434=) rs371633490 0.00009
NM_015909.4(NBAS):c.1903A>T (p.Ile635Phe) rs201269329 0.00006
NM_015909.4(NBAS):c.6311G>A (p.Arg2104Gln) rs773412024 0.00003
NM_015909.4(NBAS):c.937C>T (p.Arg313Cys) rs571030699 0.00003
NM_015909.4(NBAS):c.5300A>G (p.Glu1767Gly) rs758597880 0.00002
NM_015909.4(NBAS):c.3839G>A (p.Arg1280Gln) rs149082253 0.00001
NM_015909.4(NBAS):c.5569A>G (p.Thr1857Ala) rs758233969 0.00001
NM_015909.4(NBAS):c.6124A>G (p.Met2042Val) rs745940158 0.00001
NM_015909.4(NBAS):c.1091A>G (p.Tyr364Cys) rs534890707
NM_015909.4(NBAS):c.1341+6G>A
NM_015909.4(NBAS):c.2340-10T>A
NM_015909.4(NBAS):c.3610A>G (p.Thr1204Ala)
NM_015909.4(NBAS):c.6712-10G>A
NM_015909.4(NBAS):c.767G>A (p.Cys256Tyr) rs575240073

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