ClinVar Miner

List of variants reported as likely benign for Hereditary hemorrhagic telangiectasia by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 120
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HGVS dbSNP
NM_000118.3(ENG):c.-9G>A rs368423516
NM_000118.3(ENG):c.1008C>T (p.Thr336=) rs766675335
NM_000118.3(ENG):c.1020G>A (p.Pro340=) rs773748110
NM_000118.3(ENG):c.1056G>A (p.Pro352=) rs769530262
NM_000118.3(ENG):c.1095C>T (p.Asp365=) rs142803546
NM_000118.3(ENG):c.1098C>T (p.Asp366=) rs201497772
NM_000118.3(ENG):c.111C>T (p.Pro37=) rs755626994
NM_000118.3(ENG):c.1134+9A>T rs200780733
NM_000118.3(ENG):c.1135-8C>T rs79426098
NM_000118.3(ENG):c.121G>A (p.Glu41Lys) rs199675436
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.150G>A (p.Ser50=) rs377129516
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_000118.3(ENG):c.1770C>T (p.Pro590=) rs370943570
NM_000118.3(ENG):c.179_180delinsAA (p.Ala60Glu) rs1060504230
NM_000118.3(ENG):c.1806C>T (p.Ile602=) rs373002544
NM_000118.3(ENG):c.1845G>T (p.Ser615=) rs759950184
NM_000118.3(ENG):c.232C>T (p.Leu78=) rs1060504229
NM_000118.3(ENG):c.291G>C (p.Leu97=) rs376641299
NM_000118.3(ENG):c.306C>T (p.Asn102=) rs148098047
NM_000118.3(ENG):c.321G>T (p.Leu107=) rs767907933
NM_000118.3(ENG):c.388C>T (p.Pro130Ser) rs199840979
NM_000118.3(ENG):c.393G>A (p.Pro131=) rs760121099
NM_000118.3(ENG):c.405C>G (p.Thr135=) rs773521685
NM_000118.3(ENG):c.456G>A (p.Glu152=) rs1588583553
NM_000118.3(ENG):c.579G>A (p.Thr193=) rs769703434
NM_000118.3(ENG):c.582C>T (p.Leu194=) rs140663846
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000118.3(ENG):c.67+7G>A rs1455679426
NM_000118.3(ENG):c.68-9C>G rs200772068
NM_000118.3(ENG):c.684G>A (p.Ser228=) rs368752783
NM_000118.3(ENG):c.690-4G>A rs762621671
NM_000118.3(ENG):c.690-5C>T rs374628465
NM_000118.3(ENG):c.741C>T (p.Leu247=) rs201457707
NM_000118.3(ENG):c.774C>T (p.Tyr258=) rs537154767
NM_000118.3(ENG):c.817-8A>G rs753576292
NM_000118.3(ENG):c.850G>A (p.Glu284Lys) rs372045549
NM_000118.3(ENG):c.900G>A (p.Leu300=) rs140155568
NM_000118.3(ENG):c.954G>A (p.Pro318=) rs149590262
NM_000118.3(ENG):c.975T>G (p.Leu325=) rs776872127
NM_000118.3(ENG):c.992-6C>T rs756890201
NM_000118.3(ENG):c.996T>C (p.Gly332=) rs759964114
NM_000118.3(ENG):c.999G>A (p.Arg333=) rs371174838
NM_001114753.3(ENG):c.1002G>A (p.Leu334=)
NM_001114753.3(ENG):c.1023C>A (p.Ile341=)
NM_001114753.3(ENG):c.1134+92G>A
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
NM_001114753.3(ENG):c.1742-10C>T
NM_001114753.3(ENG):c.1742-9C>T
NM_001114753.3(ENG):c.1815G>A (p.Leu605=)
NM_001114753.3(ENG):c.1836C>T (p.Tyr612=)
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_001114753.3(ENG):c.1851G>A (p.Thr617=)
NM_001114753.3(ENG):c.1852+11C>T
NM_001114753.3(ENG):c.218C>T (p.Thr73Met)
NM_001114753.3(ENG):c.250G>C (p.Ala84Pro)
NM_001114753.3(ENG):c.255C>T (p.Ser85=)
NM_001114753.3(ENG):c.285G>A (p.Val95=)
NM_001114753.3(ENG):c.417A>C (p.Pro139=)
NM_001114753.3(ENG):c.596G>A (p.Arg199His) rs548424658
NM_001114753.3(ENG):c.606C>T (p.Ala202=)
NM_001114753.3(ENG):c.615G>T (p.Arg205=)
NM_001114753.3(ENG):c.654G>A (p.Ala218=)
NM_001114753.3(ENG):c.654G>C (p.Ala218=)
NM_001114753.3(ENG):c.663G>A (p.Leu221=)
NM_001114753.3(ENG):c.672G>A (p.Leu224=)
NM_001114753.3(ENG):c.705G>A (p.Thr235=)
NM_001114753.3(ENG):c.705G>C (p.Thr235=)
NM_001114753.3(ENG):c.708G>A (p.Val236=)
NM_001114753.3(ENG):c.729A>C (p.Ala243=)
NM_001114753.3(ENG):c.747C>T (p.Ala249=)
NM_001114753.3(ENG):c.753C>T (p.Leu251=)
NM_001114753.3(ENG):c.768C>T (p.Pro256=)
NM_001114753.3(ENG):c.786C>T (p.Leu262=)
NM_001114753.3(ENG):c.792C>T (p.Asp264=)
NM_001114753.3(ENG):c.817-5A>G
NM_001114753.3(ENG):c.819C>T (p.Thr273=)
NM_001114753.3(ENG):c.822T>C (p.Thr274=)
NM_001114753.3(ENG):c.831C>T (p.Tyr277=)
NM_001114753.3(ENG):c.867C>T (p.Gly289=)
NM_001114753.3(ENG):c.942C>T (p.Phe314=)
NM_001114753.3(ENG):c.991+8C>A
NM_001114753.3(ENG):c.992-5C>A
NM_001114753.3(ENG):c.9C>T (p.Arg3=)

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