ClinVar Miner

List of variants reported as pathogenic for Wiedemann-Rautenstrauch syndrome by Cole/Wambach Lab,Washington University in St. Louis

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP
NM_007055.4(POLR3A):c.1572+1G>A rs141484643
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232
NM_007055.4(POLR3A):c.2617-1G>A rs181087667
NM_007055.4(POLR3A):c.3243-2A>G rs1462460124
NM_007055.4(POLR3A):c.3337-11T>C rs1564613755
NM_007055.4(POLR3A):c.3337-5T>A rs368905417
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) rs1168641193
NM_007055.4(POLR3A):c.490+1G>A rs1564623882
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018

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