ClinVar Miner

List of variants reported as pathogenic for Hereditary hemorrhagic telangiectasia type 1 by OMIM

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Total variants: 9
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HGVS dbSNP
NM_000118.3(ENG):c.1238G>T (p.Gly413Val) rs121918401
NM_000118.3(ENG):c.2T>C (p.Met1Thr) rs267606783
NM_000118.3(ENG):c.360+1G>A rs886039505
NM_000118.3(ENG):c.360+4A>G rs1564457752
NM_000118.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_000118.3(ENG):c.67+1G>A rs1554813783
NM_000118.3(ENG):c.831C>G (p.Tyr277Ter) rs121918400
NM_001114753.3(ENG):c.1553_1554del (p.Ser518fs)
NM_001114753.3(ENG):c.882_920del (p.Thr295_Asn307del)

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