List of variants studied for Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities by New York Genome Center

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000937.5(POLR2A):c.2887C>T (p.Arg963Trp)	rs2150883974
NM_000937.5(POLR2A):c.3238A>G (p.Ile1080Val)	rs774247772
NM_000937.5(POLR2A):c.3946A>G (p.Asn1316Asp)	rs1303710800
NM_000937.5(POLR2A):c.4645A>T (p.Ser1549Cys)	rs145775309
NM_000937.5(POLR2A):c.5577G>T (p.Lys1859Asn)	rs534923033

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