List of variants reported as pathogenic for Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000937.5(POLR2A):c.1370T>C (p.Ile457Thr)	rs1597796823
NM_000937.5(POLR2A):c.2098C>T (p.Gln700Ter)	rs1597798340
NM_000937.5(POLR2A):c.2203C>T (p.Gln735Ter)	rs1597798503
NM_000937.5(POLR2A):c.2207C>T (p.Thr736Met)	rs1597798507
NM_000937.5(POLR2A):c.2289C>G (p.Tyr763Ter)
NM_000937.5(POLR2A):c.3368G>A (p.Arg1123Gln)	rs1597803120
NM_000937.5(POLR2A):c.3371T>C (p.Leu1124Pro)	rs1597803125
NM_000937.5(POLR2A):c.3752A>G (p.Asn1251Ser)	rs2070680579
NM_000937.5(POLR2A):c.4252G>A (p.Gly1418Arg)	rs2070711917
NM_000937.5(POLR2A):c.5428C>T (p.Arg1810Ter)	rs2070732825

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