ClinVar Miner

List of variants reported as likely pathogenic by Medical Genetics, University of Parma

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ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile) rs199474755 0.00002
NM_000091.5(COL4A3):c.2488_2488+2del rs1363058249 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val) rs773317939
NM_000091.5(COL4A3):c.2489-1G>A rs1574782406
NM_000091.5(COL4A3):c.2621del (p.Gly874fs) rs759043857
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser) rs2073401281
NM_000092.5(COL4A4):c.1192_1195dup (p.Ala399fs) rs2060340440
NM_000092.5(COL4A4):c.1580del (p.Gly527fs) rs2059732983
NM_000092.5(COL4A4):c.2940dup (p.Gly981fs) rs1974295317
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp) rs760795817
NM_000092.5(COL4A4):c.836G>A (p.Gly279Glu) rs2060622881
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1144del (p.Ser382fs) rs1135402802
NM_001042492.3(NF1):c.1235A>G (p.Asn412Ser) rs1567836090
NM_001042492.3(NF1):c.1392+1G>A rs267604791
NM_001042492.3(NF1):c.1527+1G>C rs1060500331
NM_001042492.3(NF1):c.1585C>T (p.Leu529Phe) rs1135402816
NM_001042492.3(NF1):c.1641+2del rs1135402818
NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro) rs199474774
NM_001042492.3(NF1):c.1845+1_1845+5del rs1135402822
NM_001042492.3(NF1):c.2392A>C (p.Lys798Gln) rs1135402830
NM_001042492.3(NF1):c.2410-13A>G rs1567848711
NM_001042492.3(NF1):c.2851G>T (p.Val951Phe) rs1597716277
NM_001042492.3(NF1):c.2870A>T (p.Asn957Ile) rs1135402834
NM_001042492.3(NF1):c.288+4A>G rs781459468
NM_001042492.3(NF1):c.2990+1G>A rs1135402836
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr) rs137854553
NM_001042492.3(NF1):c.3112A>G (p.Arg1038Gly) rs1597717017
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp) rs2067137147
NM_001042492.3(NF1):c.3479G>A (p.Gly1160Asp) rs2067138342
NM_001042492.3(NF1):c.3496+3G>T rs1060500287
NM_001042492.3(NF1):c.3589G>A (p.Ala1197Thr) rs2151435523
NM_001042492.3(NF1):c.3651T>G (p.Asp1217Glu) rs1135402846
NM_001042492.3(NF1):c.3706T>C (p.Trp1236Arg) rs1555615111
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_001042492.3(NF1):c.4099T>C (p.Cys1367Arg) rs2151451647
NM_001042492.3(NF1):c.4109_4110delinsCC (p.Gln1370Pro) rs2151451687
NM_001042492.3(NF1):c.4243A>T (p.Asn1415Tyr) rs1555618518
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln) rs137854550
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=) rs199474750
NM_001042492.3(NF1):c.4403T>G (p.Val1468Gly) rs1135402860
NM_001042492.3(NF1):c.4532T>G (p.Leu1511Arg) rs1135402864
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg) rs1135402865
NM_001042492.3(NF1):c.4836-1G>A rs1057518326
NM_001042492.3(NF1):c.4915T>G (p.Tyr1639Asp) rs2151537742
NM_001042492.3(NF1):c.5269-1G>C rs876660141
NM_001042492.3(NF1):c.541_542del (p.Gln181fs) rs1135402790
NM_001042492.3(NF1):c.5476C>G (p.His1826Asp) rs1135402871
NM_001042492.3(NF1):c.5571del (p.Ile1857fs) rs1135402874
NM_001042492.3(NF1):c.5610-2A>T rs1135402876
NM_001042492.3(NF1):c.5780del (p.Leu1927fs) rs1135402880
NM_001042492.3(NF1):c.586+2T>C rs1135402791
NM_001042492.3(NF1):c.6023A>C (p.Asp2008Ala) rs2069668717
NM_001042492.3(NF1):c.6118T>C (p.Ser2040Pro) rs1567616704
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn) rs1135402882
NM_001042492.3(NF1):c.6428-2A>C rs1060500312
NM_001042492.3(NF1):c.6428-3C>A rs374014162
NM_001042492.3(NF1):c.6600del (p.Ser2201fs) rs1135402892
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_001042492.3(NF1):c.6685T>G (p.Trp2229Gly) rs1060500342
NM_001042492.3(NF1):c.6810del (p.Ser2272fs) rs1135402893
NM_001042492.3(NF1):c.6819+2T>C rs1135402894
NM_001042492.3(NF1):c.6921+1G>A rs1060500355
NM_001042492.3(NF1):c.7013T>G (p.Leu2338Arg) rs2151561836
NM_001042492.3(NF1):c.7025T>G (p.Leu2342Arg) rs2151561874
NM_001042492.3(NF1):c.7062+2T>C rs1135402898
NM_001042492.3(NF1):c.7181T>G (p.Leu2394Arg) rs1135402899
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001042492.3(NF1):c.7321+1G>T rs1135402903
NM_001042492.3(NF1):c.7838dup (p.Lys2614fs) rs1131691129
NM_001042492.3(NF1):c.7970+4_7970+7del rs1064794279
NM_001042492.3(NF1):c.862del (p.Val288fs) rs1135402797
NM_001042492.3(NF1):c.888+1G>C rs1135402799
NM_001042492.3(NF1):c.889-1G>A rs587781517
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg) rs2066342176
NM_033380.3(COL4A5):c.1799G>T (p.Gly600Val) rs1569494281
NM_033380.3(COL4A5):c.3437G>A (p.Gly1146Glu) rs2068061224
NM_033380.3(COL4A5):c.3473G>A (p.Gly1158Glu) rs2068082287
NM_033380.3(COL4A5):c.3623G>A (p.Gly1208Glu) rs2068126851
NM_033380.3(COL4A5):c.4222del (p.Thr1408fs) rs2068537554
NM_033380.3(COL4A5):c.865G>A (p.Gly289Ser) rs2066231013

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