List of variants studied for Neonatal pseudo-hydrocephalic progeroid syndrome; Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met)	rs56214655	0.01630
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val)	rs146253630	0.00599
NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His)	rs200118797	0.00002
NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu)	rs34588967
NM_007055.4(POLR3A):c.1771-6C>G	rs115020338
NM_007055.4(POLR3A):c.2616+1G>A

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