ClinVar Miner

List of variants reported as benign for Hereditary hemorrhagic telangiectasia type 1 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 12
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HGVS dbSNP
NM_000118.3(ENG):c.-115G>C rs546892762
NM_000118.3(ENG):c.-54C>A rs2296702
NM_000118.3(ENG):c.112G>A (p.Glu38Lys) rs747481834
NM_000118.3(ENG):c.1419C>T (p.Ser473=) rs561818608
NM_000118.3(ENG):c.388C>T (p.Pro130Ser) rs199840979
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_001114753.3(ENG):c.*320G>A
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669
NM_001114753.3(ENG):c.909C>T (p.Ala303=) rs200306464
NM_005359.5(SMAD4):c.*5637_*5640delACAC rs368759758
NM_005359.6(SMAD4):c.*5691_*5693del rs374306389
NM_005359.6(SMAD4):c.*5863_*5867del rs78989198

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