ClinVar Miner

List of variants studied for Wiedemann-Rautenstrauch syndrome by OMIM

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Total variants: 13
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HGVS dbSNP
NM_007055.3(POLR3A):c.*18C>T
NM_007055.4(POLR3A):c.1048+5G>T rs890755853
NM_007055.4(POLR3A):c.1800C>T (p.Ile600=)
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter)
NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter)
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) rs148932047
NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln) rs778985686
NM_007055.4(POLR3A):c.3337-1G>A
NM_007055.4(POLR3A):c.3337-5T>A rs368905417
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile)
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) rs768222183
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)
POLR3A, IVS14, G-A, +22 (rs191875469) AND IVS25, T-C, -11

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