ClinVar Miner

List of variants in gene combination LOC126860794, NOTCH1 reported as likely benign for Familial thoracic aortic aneurysm and aortic dissection

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356 0.00236
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478 0.00108
NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=) rs73668311 0.00061
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=) rs369167693 0.00046
NM_017617.5(NOTCH1):c.6082+10C>T rs114120958 0.00019
NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=) rs758702512 0.00010
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=) rs201625763 0.00009
NM_017617.5(NOTCH1):c.6083-4G>A rs570242146 0.00008
NM_017617.5(NOTCH1):c.6090C>T (p.Ser2030=) rs773621396 0.00005
NM_017617.5(NOTCH1):c.5964G>C (p.Leu1988=) rs967233612 0.00003
NM_017617.5(NOTCH1):c.6054C>T (p.His2018=) rs202198360 0.00002
NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=) rs375920679 0.00002
NM_017617.5(NOTCH1):c.5995C>T (p.Leu1999=) rs1208814818 0.00001
NM_017617.5(NOTCH1):c.6013C>T (p.Leu2005=) rs557773323 0.00001
NM_017617.5(NOTCH1):c.6060C>T (p.Asp2020=) rs765374882 0.00001
NM_017617.5(NOTCH1):c.6087G>A (p.Lys2029=) rs746460306 0.00001
NM_017617.5(NOTCH1):c.6099C>T (p.His2033=) rs527690078 0.00001
NM_017617.5(NOTCH1):c.6156T>A (p.Ala2052=) rs768912472 0.00001
NM_017617.5(NOTCH1):c.5979T>C (p.His1993=)
NM_017617.5(NOTCH1):c.5982T>C (p.Asp1994=)
NM_017617.5(NOTCH1):c.5988G>C (p.Thr1996=)
NM_017617.5(NOTCH1):c.5991G>C (p.Thr1997=)
NM_017617.5(NOTCH1):c.5994A>G (p.Pro1998=)
NM_017617.5(NOTCH1):c.6003G>C (p.Leu2001=)
NM_017617.5(NOTCH1):c.6018C>A (p.Ala2006=)
NM_017617.5(NOTCH1):c.6018C>T (p.Ala2006=) rs748935957
NM_017617.5(NOTCH1):c.6051A>T (p.Ser2017=)
NM_017617.5(NOTCH1):c.6057C>G (p.Ala2019=) rs758702512
NM_017617.5(NOTCH1):c.6063C>T (p.Val2021=) rs1589054533
NM_017617.5(NOTCH1):c.6072A>G (p.Val2024=)
NM_017617.5(NOTCH1):c.6129C>T (p.Ala2043=) rs563053477
NM_017617.5(NOTCH1):c.6153G>A (p.Gly2051=) rs1554826678

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