ClinVar Miner

List of variants in gene combination ENG, LOC102723566 reported as likely benign for Hereditary hemorrhagic telangiectasia type 1

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Total variants: 14
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HGVS dbSNP
NM_000118.3(ENG):c.1135-7G>A rs201359896
NM_000118.3(ENG):c.1374A>G (p.Pro458=) rs34828244
NM_000118.3(ENG):c.1407G>A (p.Pro469=) rs41302657
NM_000118.3(ENG):c.1428+127G>A rs761685402
NM_000118.3(ENG):c.1452C>T (p.Ser484=) rs115450389
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.1533G>A (p.Ala511=) rs140760635
NM_000118.3(ENG):c.1671C>T (p.Thr557=) rs369135742
NM_000118.3(ENG):c.1686+6T>G rs369766351
NM_000118.3(ENG):c.1712G>A (p.Arg571His) rs138799379
NM_000118.3(ENG):c.1741+10C>T rs1554809082
NM_001114753.3(ENG):c.1238G>A (p.Gly413Asp)
NM_001114753.3(ENG):c.1290G>T (p.Leu430=)
NM_001114753.3(ENG):c.1337A>G (p.Asp446Gly)

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