ClinVar Miner

List of variants in gene NBAS reported as benign by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_015909.4(NBAS):c.514-11C>T rs10208972 0.63693
NM_015909.4(NBAS):c.287+20_287+21insT rs34789730 0.63674
NM_015909.4(NBAS):c.2223G>A (p.Leu741=) rs7590340 0.62331
NM_015909.4(NBAS):c.1386A>G (p.Arg462=) rs13014906 0.61896
NM_015909.4(NBAS):c.1148-9G>C rs1990755 0.60582
NM_015909.4(NBAS):c.1242T>C (p.Ser414=) rs1990754 0.60538
NM_015909.4(NBAS):c.1147+11C>T rs1125534 0.60275
NM_015909.4(NBAS):c.727A>G (p.Ile243Val) rs13029846 0.52998
NM_015909.4(NBAS):c.1964A>G (p.Lys655Arg) rs4668909 0.50411
NM_015909.4(NBAS):c.711T>C (p.His237=) rs75347158 0.00480
NM_015909.4(NBAS):c.3282T>C (p.His1094=) rs139891797 0.00418
NM_015909.4(NBAS):c.4659+12C>G rs114354862 0.00364
NM_015909.4(NBAS):c.5725-13_5725-12insATTA rs57516013

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