ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004153.4(ORC1):c.*231C>T rs3087471 0.04368
NM_004153.4(ORC1):c.568G>A (p.Val190Met) rs3087477 0.02312
NM_004153.4(ORC1):c.2447T>C (p.Met816Thr) rs34521609 0.01742
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val) rs3087476 0.01375
NM_004153.4(ORC1):c.540A>C (p.Gln180His) rs3087482 0.01286
NM_004153.4(ORC1):c.1406G>A (p.Cys469Tyr) rs3087483 0.01081
NM_004153.4(ORC1):c.1397C>T (p.Thr466Met) rs3087481 0.00702
NM_004153.4(ORC1):c.1186C>T (p.Arg396Trp) rs114426997 0.00382
NM_004153.4(ORC1):c.1584-4C>G rs114617697 0.00366
NM_004153.4(ORC1):c.2427G>A (p.Glu809=) rs77077945 0.00224
NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg) rs547441862 0.00006

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