ClinVar Miner

List of variants reported as likely benign for Meier-Gorlin syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu) rs61753390 0.00653
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile) rs61753389 0.00503
NM_004153.4(ORC1):c.57G>C (p.Arg19Ser) rs3087473 0.00472
NM_001254.4(CDC6):c.*733A>G rs544343681 0.00317
NM_004153.4(ORC1):c.2226C>A (p.Ser742=) rs34644009 0.00271
NM_004153.4(ORC1):c.403-7A>C rs199834691 0.00197
NM_004153.4(ORC1):c.402+12C>T rs138085865 0.00193
NM_001254.4(CDC6):c.712A>G (p.Thr238Ala) rs4135010 0.00192
NM_001254.4(CDC6):c.*358G>T rs575274633 0.00181
NM_001254.4(CDC6):c.165C>T (p.Pro55=) rs142289528 0.00097
NM_001254.4(CDC6):c.*653C>A rs4135033 0.00040
NM_004153.4(ORC1):c.189G>T (p.Pro63=) rs201244952
NM_014321.4(ORC6):c.*578AGAT[4] rs568119196
NM_014321.4(ORC6):c.*599GATA[7] rs60635029
NM_018206.6(VPS35):c.-34G>A rs3743928

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