List of variants reported for Chromosome 2q37 deletion syndrome; Neurodevelopmental disorder with central hypotonia and dysmorphic facies by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001378414.1(HDAC4):c.2532+18G>A	rs186981980	0.00178
NM_001378414.1(HDAC4):c.1748C>T (p.Pro583Leu)	rs201187772	0.00030
NM_001378414.1(HDAC4):c.1534-9G>A	rs375265585	0.00028
NM_001378414.1(HDAC4):c.111G>A (p.Ala37=)	rs540431173	0.00010
NM_001378414.1(HDAC4):c.1649C>T (p.Pro550Leu)	rs151167488	0.00006

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