ClinVar Miner

List of variants in gene ENG reported as benign for Hereditary hemorrhagic telangiectasia

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664 0.14184
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817 0.06792
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484 0.03618
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_001114753.3(ENG):c.732C>T (p.Pro244=) rs112262663 0.00124
NM_001114753.3(ENG):c.179C>A (p.Ala60Asp) rs146100407 0.00117
NM_001114753.3(ENG):c.180C>A (p.Ala60=) rs146188464 0.00117
NM_001114753.3(ENG):c.524-12G>A rs142841129 0.00116
NM_001114753.3(ENG):c.524-15C>T rs201463582 0.00114
NM_001114753.3(ENG):c.225G>A (p.Pro75=) rs116146060 0.00091
NM_001114753.3(ENG):c.-186G>A rs569618819 0.00080
NM_001114753.3(ENG):c.-54C>A rs2296702 0.00080
NM_001114753.3(ENG):c.617G>C (p.Gly206Ala) rs201393380 0.00080
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_001114753.3(ENG):c.234G>A (p.Leu78=) rs115675061 0.00076
NM_001114753.3(ENG):c.816+12G>A rs115316938 0.00076
NM_001114753.3(ENG):c.-158C>T rs41470844 0.00075
NM_001114753.3(ENG):c.219+22C>T rs370257876 0.00073
NM_001114753.3(ENG):c.159C>T (p.Cys53=) rs148475405 0.00056
NM_001114753.3(ENG):c.687C>T (p.Ala229=) rs376919650 0.00042
NM_001114753.3(ENG):c.-63C>T rs886063476 0.00028
NM_001114753.3(ENG):c.388C>T (p.Pro130Ser) rs199840979 0.00021
NM_001114753.3(ENG):c.595C>T (p.Arg199Cys) rs752195587 0.00016
NM_001114753.3(ENG):c.322C>T (p.His108Tyr) rs756897517 0.00015
NM_001114753.3(ENG):c.360+91C>T rs371908386 0.00012
NM_001114753.3(ENG):c.1040A>G (p.Lys347Arg) rs150829904 0.00009
NM_001114753.3(ENG):c.634G>A (p.Val212Met) rs370652082 0.00008
NM_001114753.3(ENG):c.689+17G>A rs773103359 0.00005
NM_001114753.3(ENG):c.112G>A (p.Glu38Lys) rs747481834 0.00004
NM_001114753.3(ENG):c.1761C>T (p.Leu587=) rs546872552 0.00004
NM_001114753.3(ENG):c.727G>A (p.Ala243Thr) rs761827492 0.00004
NM_001114753.3(ENG):c.742G>A (p.Asp248Asn) rs775160533 0.00004
NM_001114753.3(ENG):c.1093G>A (p.Asp365Asn) rs548690138 0.00003
NM_001114753.3(ENG):c.593C>T (p.Pro198Leu) rs777633247 0.00003
NM_001114753.3(ENG):c.627G>C (p.Leu209Phe) rs763087751 0.00003
NM_001114753.3(ENG):c.69T>C (p.Ser23=) rs202048202 0.00003
NM_001114753.3(ENG):c.805A>G (p.Met269Val) rs1323617205 0.00002
NM_001114753.3(ENG):c.108C>T (p.Gly36=) rs748898883 0.00001
NM_001114753.3(ENG):c.1097A>G (p.Asp366Gly) rs932659087 0.00001
NM_001114753.3(ENG):c.278G>A (p.Arg93Gln) rs532649202 0.00001
NM_001114753.3(ENG):c.376A>G (p.Thr126Ala) rs1564456742 0.00001
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln) rs770290260 0.00001
NM_001114753.3(ENG):c.590G>A (p.Arg197Gln) rs770898485 0.00001
NM_001114753.3(ENG):c.675G>A (p.Pro225=) rs757608428 0.00001
NM_001114753.3(ENG):c.680A>G (p.His227Arg) rs377548944 0.00001
NM_001114753.3(ENG):c.943G>A (p.Val315Met) rs763508329 0.00001
NM_001114753.3(ENG):c.153G>C (p.Lys51Asn)
NM_001114753.3(ENG):c.15G>A (p.Thr5=)
NM_001114753.3(ENG):c.176A>G (p.Asn59Ser)
NM_001114753.3(ENG):c.1852+20A>G
NM_001114753.3(ENG):c.269C>T (p.Thr90Ile)
NM_001114753.3(ENG):c.507C>T (p.Leu169=) rs750014839
NM_001114753.3(ENG):c.565G>A (p.Asp189Asn) rs147792018
NM_001114753.3(ENG):c.585G>C (p.Glu195Asp)
NM_001114753.3(ENG):c.602C>A (p.Pro201Gln)
NM_001114753.3(ENG):c.699G>A (p.Thr233=)
NM_001114753.3(ENG):c.816+20C>T
NM_001114753.3(ENG):c.909C>T (p.Ala303=) rs200306464
NM_001114753.3(ENG):c.933G>T (p.Val311=)

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