ClinVar Miner

List of variants reported as uncertain significance by Medical Genetics, University of Parma

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.2717-5A>T rs1800519 0.01182
NM_000092.5(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437 0.00274
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val) rs747614562 0.00007
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln) rs560262404 0.00003
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_000092.5(COL4A4):c.1820C>T (p.Ala607Val) rs373916569 0.00001
NM_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser) rs554736387 0.00001
NM_001042492.3(NF1):c.1004A>G (p.Asn335Ser) rs758212945 0.00001
NM_001042492.3(NF1):c.3394C>T (p.Arg1132Cys) rs587781725 0.00001
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr) rs754639587 0.00001
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala) rs199474793 0.00001
NM_000091.5(COL4A3):c.1084C>T (p.Pro362Ser) rs767943108
NM_000091.5(COL4A3):c.3882+5G>A rs1553764454
NM_000092.5(COL4A4):c.4522+4T>G rs1963375507
NM_000092.5(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_001042492.3(NF1):c.1061A>G (p.Lys354Arg) rs1135402801
NM_001042492.3(NF1):c.1460G>A (p.Arg487Lys) rs1135402809
NM_001042492.3(NF1):c.1477C>G (p.Leu493Val) rs1135402812
NM_001042492.3(NF1):c.1714_1721+5del rs1135402821
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser) rs1135402831
NM_001042492.3(NF1):c.2886_2897del (p.Glu962_Ala966delinsAsp) rs1135402835
NM_001042492.3(NF1):c.289-22A>C rs2143669668
NM_001042492.3(NF1):c.3113+2T>C rs876658997
NM_001042492.3(NF1):c.3521A>G (p.Gln1174Arg) rs1135402843
NM_001042492.3(NF1):c.3578T>C (p.Phe1193Ser) rs199474780
NM_001042492.3(NF1):c.3632T>G (p.Leu1211Arg) rs1135402845
NM_001042492.3(NF1):c.4109A>C (p.Gln1370Pro) rs1135402853
NM_001042492.3(NF1):c.4110G>C (p.Gln1370His) rs1135402854
NM_001042492.3(NF1):c.4498A>G (p.Ser1500Gly) rs1135402862
NM_001042492.3(NF1):c.4929G>T (p.Val1643=) rs17880521
NM_001042492.3(NF1):c.5385T>A (p.Asp1795Glu) rs1135402870
NM_001042492.3(NF1):c.548T>A (p.Ile183Asn) rs2143707759
NM_001042492.3(NF1):c.615G>A (p.Lys205=) rs1135402794
NM_001042492.3(NF1):c.6424A>C (p.Ser2142Arg) rs1135402886
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn) rs1060500373
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=) rs1135402896
NM_001042492.3(NF1):c.7241A>C (p.His2414Pro) rs876659855
NM_001042492.3(NF1):c.8160+2T>G rs1135402909
NM_001042492.3(NF1):c.8176G>A (p.Asp2726Asn) rs1135402910
NM_001042492.3(NF1):c.886A>T (p.Lys296Ter) rs1135402798
NM_033380.3(COL4A5):c.4821G>C (p.Met1607Ile) rs104886300

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