ClinVar Miner

List of variants in gene ACVRL1 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000020.2(ACVRL1):c.*120G>A rs539571133
NM_000020.2(ACVRL1):c.*131C>T rs886049610
NM_000020.2(ACVRL1):c.*1351G>A rs886049616
NM_000020.2(ACVRL1):c.*1493G>A rs565400159
NM_000020.2(ACVRL1):c.*1630C>T rs886049617
NM_000020.2(ACVRL1):c.*1662A>T rs886049618
NM_000020.2(ACVRL1):c.*1689G>A rs139351455
NM_000020.2(ACVRL1):c.*1777G>A rs546585572
NM_000020.2(ACVRL1):c.*1839C>T rs755262319
NM_000020.2(ACVRL1):c.*200A>G rs886049611
NM_000020.2(ACVRL1):c.*205G>A rs886049612
NM_000020.2(ACVRL1):c.*2098A>C rs886049619
NM_000020.2(ACVRL1):c.*2277A>T rs529631289
NM_000020.2(ACVRL1):c.*2347A>C rs573540605
NM_000020.2(ACVRL1):c.*242A>G rs147728309
NM_000020.2(ACVRL1):c.*251A>G rs886049613
NM_000020.2(ACVRL1):c.*879G>T rs886049615
NM_000020.2(ACVRL1):c.-129G>A rs886049607
NM_000020.2(ACVRL1):c.-194A>C rs886049606
NM_000020.2(ACVRL1):c.-202C>G rs573855752
NM_000020.2(ACVRL1):c.-52G>A rs573048639
NM_000020.2(ACVRL1):c.-58G>A rs886049608
NM_000020.2(ACVRL1):c.429C>T (p.Val143=) rs762047618
NM_000020.2(ACVRL1):c.518T>C (p.Met173Thr) rs754813319
NM_000020.2(ACVRL1):c.713C>T (p.Ser238Phe) rs761033311

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