ClinVar Miner

List of variants reported as pathogenic for Meier-Gorlin syndrome 2

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Total variants: 5
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NM_181741.4(ORC4):c.1226del (p.Thr409fs) rs797045852
NM_181741.4(ORC4):c.1A>G (p.Met1Val) rs1085307083
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys) rs387906847
NM_181741.4(ORC4):c.870_873dup (p.Ala292fs) rs797044461

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