ClinVar Miner

List of variants reported as pathogenic for Meier-Gorlin syndrome 3 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_014321.4(ORC6):c.257_258del (p.Ser85_Phe86insTer) rs786205258
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505
NM_014321.4(ORC6):c.449+5G>A rs572314014
NM_014321.4(ORC6):c.598_601AGAA[1] (p.Lys201fs) rs879255692
NM_014321.4(ORC6):c.695A>C (p.Tyr232Ser) rs387906969

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