List of variants studied for Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 by Genome-Nilou Lab

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001371986.1(UNC80):c.3977-4C>A	rs2370838	0.98394
NM_001371986.1(UNC80):c.9069G>A (p.Gln3023=)	rs2075117	0.63732
NM_001371986.1(UNC80):c.9119-36A>G	rs2723222	0.43696
NM_001371986.1(UNC80):c.3455-13A>G	rs2191906	0.19284
NM_001371986.1(UNC80):c.3333C>G (p.Leu1111=)	rs10178675	0.17606
NM_001371986.1(UNC80):c.3250+46C>A	rs9288414	0.15170

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