ClinVar Miner

List of variants in gene ACVRL1 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.-5-468C>T rs1700159 0.79646
NM_000020.3(ACVRL1):c.314-35A>G rs2071219 0.46706
NM_000020.3(ACVRL1):c.313+11C>T rs2071218 0.45979
NM_000020.3(ACVRL1):c.1378-248T>G rs2656315 0.32172
NM_000020.3(ACVRL1):c.1377+297T>A rs1150051 0.32017
NM_000020.3(ACVRL1):c.-5-465A>G rs1690215 0.31904
NM_000020.3(ACVRL1):c.1378-405A>G rs813471 0.31751
NM_000020.3(ACVRL1):c.1377+45T>C rs706815 0.31560
NM_000020.3(ACVRL1):c.1377+65A>G rs706816 0.31557
NM_000020.3(ACVRL1):c.-5-227C>G rs2277381 0.08706
NM_000020.3(ACVRL1):c.1378-155T>G rs2277383 0.08548
NM_000020.3(ACVRL1):c.625+164T>C rs77709482 0.07925
NM_000020.3(ACVRL1):c.772+305T>A rs150466281 0.07906
NM_000020.3(ACVRL1):c.-5-33C>T rs2277382 0.07716
NM_000020.3(ACVRL1):c.1378-339T>G rs74094826 0.05144
NM_000020.3(ACVRL1):c.1377+326G>T rs11609817 0.04840
NM_000020.3(ACVRL1):c.1378-217A>G rs772003 0.04704
NM_000020.3(ACVRL1):c.747G>A (p.Val249=) rs1058563 0.04166
NM_000020.3(ACVRL1):c.61+22A>G rs706812 0.03730
NM_000020.3(ACVRL1):c.626-53C>T rs111245531 0.02158
NM_000020.3(ACVRL1):c.1378-30T>C rs142910573 0.02009
NM_000020.3(ACVRL1):c.314-65G>C rs113559681 0.01773
NM_000020.3(ACVRL1):c.330G>A (p.Ser110=) rs77341011 0.01461
NM_000020.3(ACVRL1):c.-46C>G rs190953189 0.01297
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_000020.3(ACVRL1):c.1246+19C>T rs185343653 0.00959
NM_000020.3(ACVRL1):c.1246+9C>T rs115378744 0.00958
NM_000020.3(ACVRL1):c.1377+249TG[18] rs55945390
NM_000020.3(ACVRL1):c.1377+249TG[19] rs55945390
NM_000020.3(ACVRL1):c.1377+249TG[21] rs55945390
NM_000020.3(ACVRL1):c.1377+249TG[22] rs55945390
NM_000020.3(ACVRL1):c.62-196C>G rs35960167
NM_000020.3(ACVRL1):c.625+110_625+130del rs67833112
NM_000020.3(ACVRL1):c.772+132TTTAA[10] rs55800652
NM_000020.3(ACVRL1):c.772+132TTTAA[11] rs55800652
NM_000020.3(ACVRL1):c.772+132TTTAA[8] rs55800652

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