List of variants reported as pathogenic for Neonatal pseudo-hydrocephalic progeroid syndrome by Cole/Wambach Lab, Washington University in St. Louis

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)	rs141659018	0.00004
NM_007055.4(POLR3A):c.1572+1G>A	rs141484643	0.00003
NM_007055.4(POLR3A):c.2617-1G>A	rs181087667	0.00002
NM_007055.4(POLR3A):c.3243-2A>G	rs1462460124	0.00002
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter)	rs774007232	0.00001
NM_007055.4(POLR3A):c.3337-11T>C	rs1564613755	0.00001
NM_007055.4(POLR3A):c.3337-5T>A	rs368905417	0.00001
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile)	rs1168641193
NM_007055.4(POLR3A):c.490+1G>A	rs1564623882

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