ClinVar Miner

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

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Total variants: 40
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HGVS dbSNP
NM_000118.3(ENG):c.1135-8C>T rs79426098
NM_000118.3(ENG):c.1273-4G>A rs373308042
NM_000118.3(ENG):c.1273-5C>T rs779103881
NM_000118.3(ENG):c.1293G>A (p.Ser431=) rs774036076
NM_000118.3(ENG):c.1299A>G (p.Ser433=) rs762387524
NM_000118.3(ENG):c.1302A>G (p.Ser434=) rs1588576596
NM_000118.3(ENG):c.1323C>T (p.His441=) rs751203937
NM_000118.3(ENG):c.1389C>T (p.Ala463=) rs200168633
NM_000118.3(ENG):c.1429-9C>T rs370836025
NM_000118.3(ENG):c.1437G>A (p.Val479=) rs754600063
NM_000118.3(ENG):c.1440C>A (p.Ser480=) rs1588575160
NM_000118.3(ENG):c.1446C>T (p.Ser482=) rs143945873
NM_000118.3(ENG):c.1447G>A (p.Val483Ile) rs141330288
NM_000118.3(ENG):c.1572C>T (p.Pro524=) rs760682477
NM_000118.3(ENG):c.1632C>T (p.Thr544=) rs117510900
NM_000118.3(ENG):c.1686+6T>G rs369766351
NM_000118.3(ENG):c.1686+8G>C rs372670034
NM_000118.3(ENG):c.1695T>C (p.His565=) rs750637713
NM_000118.3(ENG):c.1698G>A (p.Arg566=) rs1554809103
NM_000118.3(ENG):c.1712G>A (p.Arg571His) rs138799379
NM_001114753.3(ENG):c.1200T>C (p.Gly400=)
NM_001114753.3(ENG):c.1203C>T (p.Asp401=)
NM_001114753.3(ENG):c.1272+8C>A
NM_001114753.3(ENG):c.1273-10A>G
NM_001114753.3(ENG):c.1290G>T (p.Leu430=)
NM_001114753.3(ENG):c.1312-10C>T
NM_001114753.3(ENG):c.1312-12G>A
NM_001114753.3(ENG):c.1312-4C>G
NM_001114753.3(ENG):c.1428+8G>A
NM_001114753.3(ENG):c.1429-5T>C
NM_001114753.3(ENG):c.1485G>A (p.Leu495=)
NM_001114753.3(ENG):c.1512G>A (p.Val504=)
NM_001114753.3(ENG):c.1530G>A (p.Arg510=)
NM_001114753.3(ENG):c.1584G>A (p.Pro528=)
NM_001114753.3(ENG):c.1611C>T (p.Tyr537=)
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669
NM_001114753.3(ENG):c.1650G>A (p.Thr550=)
NM_001114753.3(ENG):c.1674G>C (p.Gly558=)
NM_001114753.3(ENG):c.1686+8G>A
NM_001114753.3(ENG):c.1741+79G>A

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