ClinVar Miner

List of variants studied for arthrogryposis, distal, type 2B3

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_002470.4(MYH3):c.4957-16G>C rs2239936 0.78067
NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr) rs2285477 0.69723
NM_002470.4(MYH3):c.1581+13A>C rs2285468 0.63294
NM_002470.4(MYH3):c.534-44T>C rs1989810 0.63169
NM_002470.4(MYH3):c.5457+9dup rs397750512 0.58793
NM_002470.4(MYH3):c.2151C>A (p.Gly717=) rs876657 0.58590
NM_002470.4(MYH3):c.4731C>T (p.Ile1577=) rs2285479 0.57510
NM_002470.4(MYH3):c.2532A>G (p.Ala844=) rs2285469 0.57316
NM_002470.4(MYH3):c.2166-15A>G rs876660 0.57314
NM_002470.4(MYH3):c.1141+32G>A rs2239934 0.57301
NM_002470.4(MYH3):c.2916A>G (p.Thr972=) rs2285472 0.57294
NM_002470.4(MYH3):c.2926-12A>G rs2285473 0.57289
NM_002470.4(MYH3):c.2952T>C (p.Ser984=) rs2285474 0.57288
NM_002470.4(MYH3):c.4956+32C>T rs4792008 0.57288
NM_002470.4(MYH3):c.1003-22C>T rs2239933 0.57286
NM_002470.4(MYH3):c.349-43C>T rs2285466 0.57166
NM_002470.4(MYH3):c.349-36A>G rs2285467 0.12931
NM_002470.4(MYH3):c.1575C>T (p.Ile525=) rs34695778 0.00528
NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys) rs12941197 0.00245
NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met) rs145080512 0.00137
NM_002470.4(MYH3):c.118G>A (p.Val40Met) rs148637119 0.00010
NM_002470.4(MYH3):c.1581+1G>A rs1350968647 0.00001
NM_002470.4(MYH3):c.2392A>G (p.Met798Val) rs1412652406 0.00001
NM_002470.4(MYH3):c.2473G>A (p.Val825Ile) rs1303823400 0.00001
NM_002470.4(MYH3):c.700G>A (p.Ala234Thr) rs121913623 0.00001
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys) rs121913621
NM_002470.4(MYH3):c.1160A>G (p.Tyr387Cys) rs1567559027
NM_002470.4(MYH3):c.1385A>G (p.Asp462Gly) rs121913622
NM_002470.4(MYH3):c.1549G>T (p.Asp517Tyr) rs1597488252
NM_002470.4(MYH3):c.1624C>A (p.Pro542Thr) rs2142404938
NM_002470.4(MYH3):c.1960-8del rs3216884
NM_002470.4(MYH3):c.2590_2592del (p.Leu864del) rs879255230
NM_002470.4(MYH3):c.2682+30_2682+31del rs34274020
NM_002470.4(MYH3):c.2891A>G (p.Lys964Arg) rs2074249340
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) rs2285475
NM_002470.4(MYH3):c.4405dup (p.Glu1469fs) rs1597482824
NM_002470.4(MYH3):c.5251A>G (p.Asn1751Asp) rs2074158720
NM_002470.4(MYH3):c.533C>T (p.Thr178Ile) rs121913619
NM_002470.4(MYH3):c.5473T>C (p.Phe1825Leu) rs2074140828
NM_002470.4(MYH3):c.5796+30C>T rs12940161
NM_002470.4(MYH3):c.643-43dup rs3214114
NM_002470.4(MYH3):c.703A>G (p.Lys235Glu)
NM_002470.4(MYH3):c.782C>T (p.Ser261Phe) rs1597490381

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