ClinVar Miner

List of variants studied for Progressive myositis ossificans

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Total variants: 64
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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.68-25T>C rs1866885 0.76295
NM_001111067.4(ACVR1):c.270C>T (p.Ala90=) rs2227861 0.63722
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.-53C>T rs73966130 0.04478
NM_001111067.4(ACVR1):c.*791A>T rs74392193 0.01967
NM_001111067.4(ACVR1):c.1513T>C (p.Leu505=) rs3738927 0.01961
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.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 0.00537
NM_001111067.4(ACVR1):c.1506C>T (p.Leu502=) rs55788041 0.00207
NM_001111067.4(ACVR1):c.-182-10C>T rs186304210 0.00141
NM_001111067.4(ACVR1):c.-13A>G rs113455580 0.00109
NM_001111067.4(ACVR1):c.1086C>A (p.Ser362=) rs149498219 0.00076
NM_001111067.4(ACVR1):c.*421G>A rs761727358 0.00069
NM_001111067.4(ACVR1):c.*152G>A rs373670847 0.00068
NM_001111067.4(ACVR1):c.*762A>G rs112908089 0.00052
NM_001111067.4(ACVR1):c.*137C>T rs540607379 0.00044
NM_001111067.4(ACVR1):c.*182C>T rs111262123 0.00039
NM_001111067.4(ACVR1):c.*47C>T rs55667327 0.00038
NM_001111067.4(ACVR1):c.141C>G (p.His47Gln) rs34056189 0.00030
NM_001111067.4(ACVR1):c.99C>T (p.Tyr33=) rs201453468 0.00026
NM_001111067.4(ACVR1):c.-55C>T rs375327491 0.00017
NM_001111067.4(ACVR1):c.*210A>C rs886054987 0.00010
NM_001111067.4(ACVR1):c.*183G>A rs113598201 0.00009
NM_001111067.4(ACVR1):c.*752A>G rs1028134399 0.00009
NM_001111067.4(ACVR1):c.484G>A (p.Val162Met) rs201452185 0.00008
NM_001111067.4(ACVR1):c.-99G>A rs939671710 0.00007
NM_001111067.4(ACVR1):c.561G>A (p.Ser187=) rs377367232 0.00007
NM_001111067.4(ACVR1):c.*250C>G rs886054986 0.00006
NM_001111067.4(ACVR1):c.-183+822G>A rs1166307603 0.00005
NM_001111067.4(ACVR1):c.450A>G (p.Lys150=) rs774878576 0.00005
NM_001111067.4(ACVR1):c.126C>T (p.Cys42=) rs748424210 0.00004
NM_001111067.4(ACVR1):c.1395+5G>A rs762094464 0.00004
NM_001111067.4(ACVR1):c.*314A>C rs140005003 0.00003
NM_001111067.4(ACVR1):c.-183+919A>G rs374473767 0.00003
NM_001111067.4(ACVR1):c.820C>T (p.His274Tyr) rs375487177 0.00003
NM_001111067.4(ACVR1):c.*500G>A rs886054985 0.00002
NM_001111067.4(ACVR1):c.525T>A (p.Val175=) rs371512479 0.00002
NM_001111067.4(ACVR1):c.-183+673C>G rs1379620426 0.00001
NM_001111067.4(ACVR1):c.1029G>A (p.Leu343=) rs1219533593 0.00001
NM_001111067.4(ACVR1):c.122C>T (p.Ser41Phe) rs55957214 0.00001
NM_001111067.4(ACVR1):c.1396-2dup rs770235094 0.00001
NM_001111067.4(ACVR1):c.644-3T>C rs745601993 0.00001
NM_001111067.4(ACVR1):c.*1036del rs886054984
NM_001111067.4(ACVR1):c.*711A>G rs550878134
NM_001111067.4(ACVR1):c.*751T>G rs1684548613
NM_001111067.4(ACVR1):c.1067G>A (p.Gly356Asp) rs121912679
NM_001111067.4(ACVR1):c.1073C>A (p.Ala358Glu) rs1685632115
NM_001111067.4(ACVR1):c.1124G>C (p.Arg375Pro) rs387906590
NM_001111067.4(ACVR1):c.543+2dup rs886054988
NM_001111067.4(ACVR1):c.587T>C (p.Leu196Pro) rs797045135
NM_001111067.4(ACVR1):c.605G>T (p.Arg202Ile) rs387906591
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) rs121912678
NM_001111067.4(ACVR1):c.772A>G (p.Arg258Gly) rs863224846
NM_001111067.4(ACVR1):c.774G>C (p.Arg258Ser) rs121912680
NM_001111067.4(ACVR1):c.982G>A (p.Gly328Arg) rs387906588
NM_001111067.4(ACVR1):c.982G>T (p.Gly328Trp) rs387906588
NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu) rs387906589
NM_001204.7(BMPR2):c.1126G>A (p.Glu376Lys) rs1085307301
NM_016373.4(WWOX):c.1200_1244dup (p.*415Tyrext*15) rs2150868101

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