ClinVar Miner

List of variants in gene NF1 reported as likely pathogenic for Hereditary cancer-predisposing syndrome; Cardiovascular phenotype

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Gene type:
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Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1261-1G>A rs2066618707 0.00001
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp) rs199474732 0.00001
NM_000267.3(NF1):c.2252delG rs1597713259
NM_001042492.3(NF1):c.1062+2T>C rs2066510391
NM_001042492.3(NF1):c.1062G>A (p.Lys354=) rs1131691118
NM_001042492.3(NF1):c.1063-1G>A rs1555610955
NM_001042492.3(NF1):c.1139T>C (p.Leu380Pro) rs1555611004
NM_001042492.3(NF1):c.1186-1G>A rs876660782
NM_001042492.3(NF1):c.1186-2A>C
NM_001042492.3(NF1):c.1260+1G>C rs267606603
NM_001042492.3(NF1):c.1260+1G>T rs267606603
NM_001042492.3(NF1):c.1261-19G>A rs1597688663
NM_001042492.3(NF1):c.1261-5_1262del
NM_001042492.3(NF1):c.128T>C (p.Leu43Pro) rs1555604899
NM_001042492.3(NF1):c.1393-1555C>G
NM_001042492.3(NF1):c.1393-1G>T rs1131691131
NM_001042492.3(NF1):c.1527+2dup rs1597698533
NM_001042492.3(NF1):c.1527+4_1527+7del rs1555612294
NM_001042492.3(NF1):c.1527+5G>A rs1060500352
NM_001042492.3(NF1):c.1528-1G>T rs876660595
NM_001042492.3(NF1):c.1595T>G (p.Leu532Arg) rs199474737
NM_001042492.3(NF1):c.1642-449A>G rs863224655
NM_001042492.3(NF1):c.1657C>G (p.His553Asp)
NM_001042492.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_001042492.3(NF1):c.1721+542A>G rs2066942173
NM_001042492.3(NF1):c.1722-14_1722-5del rs2144015153
NM_001042492.3(NF1):c.1722-1G>A rs1567845818
NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro) rs199474774
NM_001042492.3(NF1):c.173T>G (p.Leu58Arg) rs1597626094
NM_001042492.3(NF1):c.176CTA[1] (p.Thr60del) rs2143627187
NM_001042492.3(NF1):c.1845+2T>G
NM_001042492.3(NF1):c.2002-2A>C rs1555613741
NM_001042492.3(NF1):c.205-3_205-2del
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_001042492.3(NF1):c.2251+3A>C
NM_001042492.3(NF1):c.2252-3T>G rs1057518842
NM_001042492.3(NF1):c.2325+3A>G rs1057517848
NM_001042492.3(NF1):c.2338A>C (p.Thr780Pro) rs1205746953
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.2352G>T (p.Trp784Cys)
NM_001042492.3(NF1):c.248A>C (p.Gln83Pro) rs1060500360
NM_001042492.3(NF1):c.2521A>C (p.Thr841Pro) rs2067066952
NM_001042492.3(NF1):c.269T>C (p.Leu90Pro) rs1555605393
NM_001042492.3(NF1):c.277T>C (p.Cys93Arg) rs1555605398
NM_001042492.3(NF1):c.2786T>C (p.Leu929Pro) rs1555614338
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_001042492.3(NF1):c.2850+2T>G rs1597715880
NM_001042492.3(NF1):c.2850_2850+2dup rs1597715874
NM_001042492.3(NF1):c.2851-1G>A rs1597716274
NM_001042492.3(NF1):c.2984T>C (p.Leu995Pro) rs1597716466
NM_001042492.3(NF1):c.3044T>C (p.Leu1015Pro) rs1131691112
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.3114-1G>A rs1555614611
NM_001042492.3(NF1):c.3114-1G>T
NM_001042492.3(NF1):c.3114-2A>G rs1428885377
NM_001042492.3(NF1):c.3114-8T>G rs1597717471
NM_001042492.3(NF1):c.3198-314G>A rs2067116490
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg) rs1164081667
NM_001042492.3(NF1):c.3315-2A>G rs1555614914
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr) rs1555614963
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3496+1G>A rs2067138719
NM_001042492.3(NF1):c.3496G>C (p.Gly1166Arg)
NM_001042492.3(NF1):c.3544G>T (p.Val1182Phe) rs1555615027
NM_001042492.3(NF1):c.3568G>A (p.Gly1190Ser) rs1597719982
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg) rs199474741
NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro) rs137854556
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr) rs863224447
NM_001042492.3(NF1):c.4231C>G (p.Leu1411Val) rs199474789
NM_001042492.3(NF1):c.4332+1G>A rs1555618572
NM_001042492.3(NF1):c.4332+1dup
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=) rs199474750
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His) rs876660206
NM_001042492.3(NF1):c.4370A>G (p.Lys1457Arg) rs1555618656
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del) rs267606607
NM_001042492.3(NF1):c.4430+1G>T rs773151680
NM_001042492.3(NF1):c.4532T>G (p.Leu1511Arg) rs1135402864
NM_001042492.3(NF1):c.4577+1del
NM_001042492.3(NF1):c.4724+2T>G rs1597748995
NM_001042492.3(NF1):c.4768T>G (p.Leu1590Val) rs1567865010
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe) rs1555619407
NM_001042492.3(NF1):c.479G>A (p.Arg160Lys) rs199474752
NM_001042492.3(NF1):c.4877A>C (p.His1626Pro)
NM_001042492.3(NF1):c.4930G>T (p.Asp1644Tyr) rs1131691123
NM_001042492.3(NF1):c.5268+5_5268+6del
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro) rs2151541565
NM_001042492.3(NF1):c.5609G>C (p.Arg1870Pro)
NM_001042492.3(NF1):c.5610-2A>C
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro) rs1555533875
NM_001042492.3(NF1):c.5768C>A (p.Thr1923Lys) rs786203824
NM_001042492.3(NF1):c.586G>A (p.Glu196Lys) rs876659079
NM_001042492.3(NF1):c.6003_6006+1dup
NM_001042492.3(NF1):c.6007-2_6007del rs1597842196
NM_001042492.3(NF1):c.61-1G>T rs1263745475
NM_001042492.3(NF1):c.6148-1G>T
NM_001042492.3(NF1):c.6343C>A (p.Pro2115Thr)
NM_001042492.3(NF1):c.6404C>T (p.Thr2135Ile) rs1555534770
NM_001042492.3(NF1):c.6428-2A>G rs1060500312
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_001042492.3(NF1):c.654+1G>T rs1060500245
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.6642+31T>G
NM_001042492.3(NF1):c.667T>A (p.Trp223Arg)
NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg) rs1060500342
NM_001042492.3(NF1):c.6704+1G>C rs1060500376
NM_001042492.3(NF1):c.6705-1G>C rs1060500356
NM_001042492.3(NF1):c.6705-3C>A rs1131691079
NM_001042492.3(NF1):c.6806_6819+5del
NM_001042492.3(NF1):c.6819+1G>C rs1555534964
NM_001042492.3(NF1):c.6862C>T (p.Gln2288Ter)
NM_001042492.3(NF1):c.68dup (p.Thr25fs) rs2143625205
NM_001042492.3(NF1):c.6968T>C (p.Leu2323Pro) rs1131691267
NM_001042492.3(NF1):c.7169T>G (p.Leu2390Trp) rs1597851443
NM_001042492.3(NF1):c.7190-1G>A rs2070073417
NM_001042492.3(NF1):c.7199A>G (p.His2400Arg) rs1597858362
NM_001042492.3(NF1):c.731-1G>T rs1555608928
NM_001042492.3(NF1):c.7458-1G>T
NM_001042492.3(NF1):c.7968_7970+2delinsACAC rs1597867032
NM_001042492.3(NF1):c.7970+2T>C
NM_001042492.3(NF1):c.7971-2A>C
NM_001042492.3(NF1):c.809A>C (p.Gln270Pro)
NM_001042492.3(NF1):c.8113+2T>G rs1597868312
NM_001042492.3(NF1):c.8114-1G>C rs1597868727
NM_001042492.3(NF1):c.819_821del (p.Leu274del) rs2143786045
NM_001042492.3(NF1):c.889-1del
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro) rs201624827
NM_001042492.3(NF1):c.989C>T (p.Ala330Val) rs1555610898
NM_001042492.3(NF1):c.99A>G (p.Lys33=) rs786203280

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