ClinVar Miner

List of variants in gene ORC6 reported as pathogenic for Meier-Gorlin syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505 0.00028
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_014321.4(ORC6):c.1A>G (p.Met1Val) rs777153067
NM_014321.4(ORC6):c.257_258del (p.Ser85_Phe86insTer) rs786205258
NM_014321.4(ORC6):c.602_605del (p.Lys201fs) rs879255692
NM_014321.4(ORC6):c.65G>A (p.Arg22Lys) rs2143010039
NM_014321.4(ORC6):c.695A>C (p.Tyr232Ser) rs387906969
NM_014321.4(ORC6):c.71C>T (p.Ala24Val) rs1279789023

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