ClinVar Miner

List of variants reported as likely pathogenic for arterial tortuosity syndrome

Included ClinVar conditions (1):
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_030777.4(SLC2A10):c.1411+2T>A rs761721442 0.00011
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) rs146579504 0.00010
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243 0.00005
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp) rs121908172 0.00004
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_030777.4(SLC2A10):c.1288+2T>C rs768848335 0.00001
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) rs763220502 0.00001
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) rs1015798796 0.00001
NM_030777.4(SLC2A10):c.1289-2A>G
NM_030777.4(SLC2A10):c.1393_1394del (p.Ser465fs) rs1980007276
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_030777.4(SLC2A10):c.395G>T (p.Arg132Leu) rs376346077
NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter) rs572620317
NM_030777.4(SLC2A10):c.5-2A>G rs770701918
NM_030777.4(SLC2A10):c.56dup (p.Leu20fs)
NM_030777.4(SLC2A10):c.68G>T (p.Gly23Val)
NM_030777.4(SLC2A10):c.899T>G (p.Leu300Trp)

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