ClinVar Miner

List of variants in gene ACVR1 reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001111067.4(ACVR1):c.690G>A (p.Glu230=) rs1146031 0.91655
NM_001111067.4(ACVR1):c.332-197T>C rs1146038 0.80307
NM_001111067.4(ACVR1):c.68-25T>C rs1866885 0.75665
NM_001111067.4(ACVR1):c.270C>T (p.Ala90=) rs2227861 0.62210
NM_001111067.4(ACVR1):c.*686T>C rs12997 0.45193
NM_001111067.4(ACVR1):c.*138G>A rs2228948 0.16631
NM_001111067.4(ACVR1):c.67+192T>A rs72923499 0.06361
NM_001111067.4(ACVR1):c.68-236del rs147945266 0.05673
NM_001111067.4(ACVR1):c.544-112C>T rs73022059 0.05419
NM_001111067.4(ACVR1):c.68-26T>C rs35392775 0.03208
NM_001111067.4(ACVR1):c.68-321C>T rs73023334 0.03205
NM_001111067.4(ACVR1):c.1513T>C (p.Leu505=) rs3738927 0.01961
NM_001111067.4(ACVR1):c.1067-225T>C rs16842015 0.01895
NM_001111067.4(ACVR1):c.643+166T>G rs16842038 0.01893
NM_001111067.4(ACVR1):c.1131C>T (p.Gly377=) rs56189710 0.01889
NM_001111067.4(ACVR1):c.*45G>T rs12936 0.01869
NM_001111067.4(ACVR1):c.1396-231A>G rs76460538 0.01835
NM_001111067.4(ACVR1):c.1396-138G>A rs3738926 0.01806
NM_001111067.4(ACVR1):c.643+134A>G rs12105359 0.01522
NM_001111067.4(ACVR1):c.643+7C>T rs12105152 0.01446
NM_001111067.4(ACVR1):c.44C>G (p.Ala15Gly) rs13406336 0.00586
NM_001111067.4(ACVR1):c.*358G>A rs79598188 0.00522
NM_001111067.4(ACVR1):c.1506C>T (p.Leu502=) rs55788041 0.00218
NM_001111067.4(ACVR1):c.1086C>A (p.Ser362=) rs149498219 0.00076
NM_001111067.4(ACVR1):c.99C>T (p.Tyr33=) rs201453468 0.00026
NM_001111067.4(ACVR1):c.1395+7A>G rs778133291 0.00015
NM_001111067.4(ACVR1):c.870G>A (p.Ser290=) rs548498262 0.00012
NM_001111067.4(ACVR1):c.76C>T (p.Pro26Ser) rs377197386 0.00005
NM_001111067.4(ACVR1):c.644-3T>C rs745601993 0.00002
NM_001111067.4(ACVR1):c.193G>A (p.Val65Ile)
NM_001111067.4(ACVR1):c.312G>A (p.Thr104=)
NM_001111067.4(ACVR1):c.412T>C (p.Leu138=)
NM_001111067.4(ACVR1):c.643+15dup rs762714753
NM_001111067.4(ACVR1):c.643+181T>A rs76651097
NM_001111067.4(ACVR1):c.67+45_67+46dup rs3030646
NM_001111067.4(ACVR1):c.67+45dup rs3030646
NM_001111067.4(ACVR1):c.68-25del rs77640967
NM_001111067.4(ACVR1):c.791-15dup

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