ClinVar Miner

List of variants in gene MYH3 reported as uncertain significance for arthrogryposis

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val) rs34165480 0.00311
NM_002470.4(MYH3):c.-44T>C rs886052590 0.00028
NM_002470.4(MYH3):c.3532G>A (p.Asp1178Asn) rs199834077 0.00028
NM_002470.4(MYH3):c.2767G>T (p.Val923Leu) rs746388623 0.00014
NM_002470.4(MYH3):c.4925A>G (p.Lys1642Arg) rs143396252 0.00012
NM_002470.4(MYH3):c.-31C>T rs762639909 0.00010
NM_002470.4(MYH3):c.118G>A (p.Val40Met) rs148637119 0.00010
NM_002470.4(MYH3):c.2486C>T (p.Pro829Leu) rs200652175 0.00004
NM_002470.4(MYH3):c.5286+6G>C rs576168867 0.00004
NM_002470.4(MYH3):c.3883A>G (p.Lys1295Glu) rs886052580 0.00003
NM_002470.4(MYH3):c.1062G>A (p.Thr354=) rs746744341 0.00002
NM_002470.4(MYH3):c.2716T>A (p.Cys906Ser) rs367709724 0.00002
NM_002470.4(MYH3):c.1130A>G (p.Asp377Gly) rs750031446 0.00001
NM_002470.4(MYH3):c.1142-3C>G rs886052585 0.00001
NM_002470.4(MYH3):c.1582-6A>G rs767481624 0.00001
NM_002470.4(MYH3):c.1707G>A (p.Val569=) rs371043485 0.00001
NM_002470.4(MYH3):c.1872G>A (p.Thr624=) rs755306757 0.00001
NM_002470.4(MYH3):c.2175G>A (p.Val725=) rs750551043 0.00001
NM_002470.4(MYH3):c.2371G>A (p.Ala791Thr) rs886052583 0.00001
NM_002470.4(MYH3):c.3252A>T (p.Lys1084Asn) rs1327044875 0.00001
NM_002470.4(MYH3):c.4148G>A (p.Arg1383His) rs143574829 0.00001
NM_002470.4(MYH3):c.4734C>T (p.Ala1578=) rs765274435 0.00001
NM_002470.4(MYH3):c.509G>A (p.Arg170His) rs777914421 0.00001
NM_002470.4(MYH3):c.5674G>A (p.Ala1892Thr) rs780846542 0.00001
NM_002470.4(MYH3):c.-9+4A>T rs886052589
NM_002470.4(MYH3):c.1211G>C (p.Arg404Thr) rs886052584
NM_002470.4(MYH3):c.1628A>T (p.Lys543Met) rs2074284177
NM_002470.4(MYH3):c.1960-17dup rs3216884
NM_002470.4(MYH3):c.207C>G (p.Thr69=) rs1358533074
NM_002470.4(MYH3):c.2305G>A (p.Gly769Ser) rs2142400628
NM_002470.4(MYH3):c.2523C>T (p.Leu841=) rs755444923
NM_002470.4(MYH3):c.2813C>A (p.Thr938Lys) rs148835368
NM_002470.4(MYH3):c.2891A>G (p.Lys964Arg) rs2074249340
NM_002470.4(MYH3):c.3173G>A (p.Gly1058Glu) rs886052582
NM_002470.4(MYH3):c.3439C>A (p.Leu1147Met) rs886052581
NM_002470.4(MYH3):c.356C>T (p.Ser119Leu) rs2142423298
NM_002470.4(MYH3):c.3594G>T (p.Ala1198=) rs139978727
NM_002470.4(MYH3):c.3609G>A (p.Glu1203=) rs368299686
NM_002470.4(MYH3):c.3945G>A (p.Glu1315=) rs2074208929
NM_002470.4(MYH3):c.440A>G (p.Lys147Arg) rs886052588
NM_002470.4(MYH3):c.4529T>C (p.Ile1510Thr) rs1388984490
NM_002470.4(MYH3):c.4591A>G (p.Arg1531Gly) rs1485125112
NM_002470.4(MYH3):c.459C>T (p.Pro153=) rs886052587
NM_002470.4(MYH3):c.4647G>C (p.Glu1549Asp) rs886052579
NM_002470.4(MYH3):c.4778G>C (p.Arg1593Thr) rs781003211
NM_002470.4(MYH3):c.4816G>T (p.Val1606Leu)
NM_002470.4(MYH3):c.4957-5G>T rs2074165689
NM_002470.4(MYH3):c.5034A>G (p.Arg1678=) rs2074164241
NM_002470.4(MYH3):c.5134G>C (p.Glu1712Gln) rs376574468
NM_002470.4(MYH3):c.5250G>A (p.Arg1750=) rs1377740859
NM_002470.4(MYH3):c.5457+10dup rs761191751
NM_002470.4(MYH3):c.5669C>G (p.Ala1890Gly) rs886052578
NM_002470.4(MYH3):c.5804T>C (p.Val1935Ala) rs886052577
NM_002470.4(MYH3):c.910A>G (p.Ile304Val) rs886052586

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