ClinVar Miner

List of variants reported as pathogenic for Meier-Gorlin syndrome 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689 0.00016
NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp) rs201253919 0.00010
NM_004153.4(ORC1):c.2159G>A (p.Arg720Gln) rs387906828 0.00002
NM_004153.4(ORC1):c.217G>A (p.Glu73Lys) rs373671398 0.00001
NM_004153.4(ORC1):c.266T>C (p.Phe89Ser) rs387906827 0.00001
NM_001190818.1(ORC1):c.2392-249_*3804del
NM_004153.4(ORC1):c.1482-2A>G rs1378348220
NM_004153.4(ORC1):c.1865T>C (p.Leu622Pro) rs2147923128
NM_004153.4(ORC1):c.1999_2000delinsA (p.Val667fs) rs1557573504
NM_004153.4(ORC1):c.237del (p.Pro80fs) rs1647490038
NM_004153.4(ORC1):c.380A>G (p.Glu127Gly) rs387906826
NM_004153.4(ORC1):c.403-2A>C rs2147941262

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