ClinVar Miner

List of variants reported as benign for Arterial tortuosity syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_030777.4(SLC2A10):c.1547+18T>G rs2425906 0.37519
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491 0.12280
NM_030777.4(SLC2A10):c.1541A>G (p.Lys514Arg) rs41283344 0.05817
NM_030777.4(SLC2A10):c.1552A>G (p.Thr518Ala) rs6018008 0.02748
NM_030777.4(SLC2A10):c.1609A>G (p.Ile537Val) rs7348121 0.02113
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly) rs79849424 0.01835
NM_030777.4(SLC2A10):c.1288+10G>A rs76315093 0.00886
NM_030777.4(SLC2A10):c.1548-18G>A rs113496485 0.00749
NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=) rs114974138 0.00514
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188 0.00411
NM_030777.4(SLC2A10):c.1212G>T (p.Gly404=) rs139155480 0.00339
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_030777.4(SLC2A10):c.630C>T (p.Gly210=) rs142431229 0.00100
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_030777.4(SLC2A10):c.746A>G (p.Asn249Ser) rs531533787 0.00031
NM_030777.4(SLC2A10):c.237C>T (p.Leu79=) rs201323237
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser) rs6094438

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