ClinVar Miner

List of variants studied for Aortic aneurysm, familial thoracic 4 by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_017668.3(NDE1):c.948-2772T>C rs143288748 0.00138
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405 0.00033
NM_002474.3(MYH11):c.-17G>C rs767563168 0.00011
NM_001040113.2(MYH11):c.5822A>G (p.Gln1941Arg) rs761957202 0.00001
NM_001040113.2(MYH11):c.5819_5820insCA (p.Gln1941fs) rs1596675237
NM_002474.3(MYH11):c.294A>C (p.Glu98Asp) rs864309563
NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg) rs760908992
NM_002474.3(MYH11):c.5435_5440dup (p.Phe1812_Lys1813dup) rs864309564

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