ClinVar Miner

List of variants in gene MYH3 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 18
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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.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.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.2106C>T (p.Gly702=) rs56259391 0.05968
NM_002470.4(MYH3):c.2610A>G (p.Lys870=) rs56163389 0.05967
NM_002470.4(MYH3):c.5457+3G>A rs200954595 0.02449
NM_002470.4(MYH3):c.4155A>G (p.Glu1385=) rs58343499 0.02173
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241 0.02138
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) rs2285475
NM_002470.4(MYH3):c.533C>T (p.Thr178Ile) rs121913619

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