ClinVar Miner

List of variants in gene MYH11 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser) rs113696032 0.00031
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val) rs148893135 0.00028
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) rs147447269 0.00021
NM_002474.3(MYH11):c.1575+7G>A rs754750176 0.00004
NM_002474.3(MYH11):c.301G>A (p.Val101Met) rs375159635 0.00004
NM_002474.3(MYH11):c.3227C>T (p.Ala1076Val) rs371205331 0.00004
NM_002474.3(MYH11):c.2000C>T (p.Thr667Met) rs750066715 0.00003
NM_002474.3(MYH11):c.1055C>T (p.Ser352Leu) rs147496115 0.00001
NM_002474.3(MYH11):c.1782G>A (p.Lys594=) rs774175693 0.00001
NM_002474.3(MYH11):c.2288T>C (p.Ile763Thr) rs944017240 0.00001
NM_002474.3(MYH11):c.2289A>G (p.Ile763Met) rs912543441
NM_002474.3(MYH11):c.2518A>G (p.Lys840Glu) rs1596768835
NM_002474.3(MYH11):c.3323A>G (p.Asn1108Ser) rs777156978
NM_002474.3(MYH11):c.3597G>C (p.Gln1199His) rs1567710211
NM_002474.3(MYH11):c.3635T>C (p.Leu1212Pro) rs755690346
NM_002474.3(MYH11):c.633+3G>A

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