List of variants reported as uncertain significance for Ataxia-pancytopenia syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_152703.5(SAMD9L):c.626C>T (p.Thr209Met)	rs376481930	0.00006
NM_152703.5(SAMD9L):c.4148C>T (p.Ser1383Phe)
NM_152703.5(SAMD9L):c.4547dup (p.Asn1516fs)
NM_152703.5(SAMD9L):c.683G>A (p.Cys228Tyr)	rs1433514195

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