ClinVar Miner

List of variants studied for arterial tortuosity syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) rs370547023 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) rs763220502 0.00001
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) rs587776600
NM_030777.4(SLC2A10):c.1393_1394del (p.Ser465fs) rs1980007276

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