ClinVar Miner

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

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NC_000009.11:g.(?_130578190)_(130592112_?)dup
NC_000009.11:g.(?_130586573)_(130592116_?)del
NC_000009.11:g.(?_130587069)_(130592116_?)dup
NC_000009.12:g.(?_127824284)_(127824994_?)del
NC_000009.12:g.(?_127824284)_(127829847_?)del
NC_000009.12:g.(?_127824294)_(127825367_?)dup
NC_000009.12:g.(?_127824294)_(127826683_?)del
NM_001114753.3(ENG):c.-58G>A
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) rs2131885751
NM_001114753.3(ENG):c.1151T>C (p.Ile384Thr) rs2131879350
NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro) rs1564453623
NM_001114753.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser) rs1830433526
NM_001114753.3(ENG):c.1214T>C (p.Leu405Ser)
NM_001114753.3(ENG):c.1220G>A (p.Ser407Asn) rs1554809516
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly) rs1830432884
NM_001114753.3(ENG):c.1241T>G (p.Met414Arg) rs1830432509
NM_001114753.3(ENG):c.1309C>G (p.Arg437Gly)
NM_001114753.3(ENG):c.1310G>A (p.Arg437Gln)
NM_001114753.3(ENG):c.1311+5G>A rs1830423993
NM_001114753.3(ENG):c.1311G>T (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1312-1G>C rs2131877148
NM_001114753.3(ENG):c.1429-23_1429-1del
NM_001114753.3(ENG):c.146T>A (p.Val49Asp)
NM_001114753.3(ENG):c.1478G>T (p.Cys493Phe)
NM_001114753.3(ENG):c.1517T>A (p.Leu506His) rs778594104
NM_001114753.3(ENG):c.1559T>C (p.Leu520Pro) rs2131875808
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_001114753.3(ENG):c.1645T>A (p.Cys549Ser) rs1830376644
NM_001114753.3(ENG):c.1686+5G>A rs1830374353
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg) rs1830302008
NM_001114753.3(ENG):c.219+2T>G
NM_001114753.3(ENG):c.219+5G>A rs1554812252
NM_001114753.3(ENG):c.293T>A (p.Val98Asp) rs1830715947
NM_001114753.3(ENG):c.360+4A>G rs1564457752
NM_001114753.3(ENG):c.360+4_360+7del rs2131894927
NM_001114753.3(ENG):c.361-11T>A
NM_001114753.3(ENG):c.619T>C (p.Cys207Arg) rs2131889169
NM_001114753.3(ENG):c.65_67+19del
NM_001114753.3(ENG):c.679_689+7del
NM_001114753.3(ENG):c.706G>A (p.Val236Met)
NM_001114753.3(ENG):c.884C>T (p.Thr295Ile) rs12042
NM_001114753.3(ENG):c.88T>C (p.Cys30Arg) rs1564462834
NM_001114753.3(ENG):c.895C>G (p.Leu299Val)
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg) rs1830569662
NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr)
NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)
NM_001114753.3(ENG):c.991+4A>G rs2131886797
NM_001114753.3(ENG):c.992-49_1046del

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