List of variants reported for Short stature, optic nerve atrophy, and Pelger-Huet anomaly by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys)	rs143212851	0.00017
NM_015909.4(NBAS):c.3577A>G (p.Met1193Val)	rs558365811	0.00004
NM_015909.4(NBAS):c.4222C>T (p.Arg1408Cys)	rs369879081	0.00001
NM_015909.4(NBAS):c.6237-3C>G	rs753196209	0.00001
NM_015909.4(NBAS):c.6840G>A (p.Thr2280=)	rs776597537

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