ClinVar Miner

List of variants studied for RASopathy by Mendelics

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 134
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HGVS dbSNP
NM_000267.3(NF1):c.1185+7G>C rs1322791959
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1528-1G>T rs876660595
NM_000267.3(NF1):c.169G>A (p.Gly57Ser) rs779727341
NM_000267.3(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_000267.3(NF1):c.233del (p.Asn78fs) rs1438566555
NM_000267.3(NF1):c.236T>G (p.Leu79Ter) rs1597629765
NM_000267.3(NF1):c.2537C>A (p.Ala846Asp) rs1555614229
NM_000267.3(NF1):c.2545_2546dup (p.Val850fs) rs1567848878
NM_000267.3(NF1):c.2617C>T (p.Arg873Cys) rs199474739
NM_000267.3(NF1):c.3468C>T (p.Asn1156=) rs147955381
NM_000267.3(NF1):c.4111-8_4111-6del rs751729752
NM_000267.3(NF1):c.4171A>G (p.Arg1391Gly) rs1555618515
NM_000267.3(NF1):c.4750A>G (p.Ile1584Val) rs199474766
NM_000267.3(NF1):c.5097G>T (p.Glu1699Asp) rs773378630
NM_000267.3(NF1):c.5360C>T (p.Thr1787Met) rs760649828
NM_000267.3(NF1):c.5438C>G (p.Ser1813Ter) rs1597832235
NM_000267.3(NF1):c.61-2A>T rs1131691100
NM_000267.3(NF1):c.6709C>T (p.Arg2237Ter) rs876658541
NM_000267.3(NF1):c.7126G>A (p.Gly2376Arg) rs1135402900
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_001042492.3(NF1):c.1186-1G>A rs876660782
NM_001042492.3(NF1):c.1188_1189del (p.Ile396fs) rs1597682729
NM_001042492.3(NF1):c.1370A>T (p.His457Leu) rs786202763
NM_001042492.3(NF1):c.1854del (p.Asp618fs) rs1597710342
NM_001042492.3(NF1):c.1891G>A (p.Gly631Arg) rs757424379
NM_001042492.3(NF1):c.1950del (p.Leu650fs) rs1597710658
NM_001042492.3(NF1):c.1989del (p.Asn664fs) rs1202226733
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_001042492.3(NF1):c.2032C>A (p.Pro678Thr) rs758691069
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753
NM_001042492.3(NF1):c.2244dup (p.Ser749fs) rs1597712758
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala) rs748064845
NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg) rs1567847681
NM_001042492.3(NF1):c.269T>A (p.Leu90Gln) rs1555605393
NM_001042492.3(NF1):c.2850+17T>C rs1410636379
NM_001042492.3(NF1):c.2896G>A (p.Ala966Thr) rs876658849
NM_001042492.3(NF1):c.2897C>G (p.Ala966Gly) rs1567849533
NM_001042492.3(NF1):c.3045_3046GT[1] (p.Cys1016fs) rs1597716910
NM_001042492.3(NF1):c.3112A>T (p.Arg1038Trp) rs1597717017
NM_001042492.3(NF1):c.3198-4dup rs371047262
NM_001042492.3(NF1):c.3198-6_3198-1del rs1597718651
NM_001042492.3(NF1):c.3199G>T (p.Asp1067Tyr) rs1597718721
NM_001042492.3(NF1):c.3204G>T (p.Leu1068Phe) rs1258842007
NM_001042492.3(NF1):c.333del (p.Lys111fs) rs1597635722
NM_001042492.3(NF1):c.3381_3382del (p.Gly1128fs) rs1597719504
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812
NM_001042492.3(NF1):c.3625G>C (p.Val1209Leu) rs1458579232
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.3974+23A>T rs376217184
NM_001042492.3(NF1):c.3989A>C (p.Glu1330Ala) rs1256727206
NM_001042492.3(NF1):c.4009C>T (p.Arg1337Trp) rs146306756
NM_001042492.3(NF1):c.4262C>T (p.Pro1421Leu) rs753997885
NM_001042492.3(NF1):c.4285A>T (p.Lys1429Ter) rs758915600
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu) rs1555618566
NM_001042492.3(NF1):c.4344_4345insCCT (p.Ile1449_Ala1450insPro) rs1597745583
NM_001042492.3(NF1):c.4381dup (p.Met1461fs) rs1597745689
NM_001042492.3(NF1):c.4431-1G>T rs1597746891
NM_001042492.3(NF1):c.4463del (p.Thr1488fs) rs1597746962
NM_001042492.3(NF1):c.4577+2T>C rs1597747184
NM_001042492.3(NF1):c.4578-12dup rs1597748630
NM_001042492.3(NF1):c.4655A>G (p.Lys1552Arg) rs1172780277
NM_001042492.3(NF1):c.4682G>A (p.Ser1561Asn) rs751414513
NM_001042492.3(NF1):c.4834A>C (p.Arg1612=) rs755137259
NM_001042492.3(NF1):c.4836-7203TGT[3] rs773381280
NM_001042492.3(NF1):c.484C>A (p.Gln162Lys) rs1555607073
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile) rs376655102
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5046dup (p.Asn1683Ter) rs1597829913
NM_001042492.3(NF1):c.5079del (p.His1693fs) rs1597829969
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014
NM_001042492.3(NF1):c.5269-2A>T rs1555533548
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_001042492.3(NF1):c.5379_5380dup (p.Val1794fs) rs1597832021
NM_001042492.3(NF1):c.5711A>C (p.Asn1904Thr) rs864622647
NM_001042492.3(NF1):c.5814_5815insTTTTT (p.Ile1939fs) rs1481408918
NM_001042492.3(NF1):c.5815A>T (p.Ile1939Phe) rs1173859882
NM_001042492.3(NF1):c.5847del (p.Met1949fs) rs1597840055
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu) rs143502927
NM_001042492.3(NF1):c.61-1G>T rs1263745475
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827
NM_001042492.3(NF1):c.6360_6363dup (p.Thr2122fs) rs1597843096
NM_001042492.3(NF1):c.64C>T (p.Pro22Ser) rs1597625794
NM_001042492.3(NF1):c.6540del (p.Ser2181fs) rs1597843853
NM_001042492.3(NF1):c.6546C>G (p.Tyr2182Ter) rs876659768
NM_001042492.3(NF1):c.6577G>C (p.Glu2193Gln) rs1135402891
NM_001042492.3(NF1):c.6623C>T (p.Ala2208Val) rs1555534886
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val) rs864622330
NM_001042492.3(NF1):c.6642+42T>C rs760581466
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln) rs786202030
NM_001042492.3(NF1):c.7006G>A (p.Ala2336Thr) rs587781428
NM_001042492.3(NF1):c.7062+1G>T rs863224492
NM_001042492.3(NF1):c.7091G>A (p.Arg2364Gln) rs1555535407
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398
NM_001042492.3(NF1):c.730+32dup rs71142032
NM_001042492.3(NF1):c.7458-2_7459del rs1597862010
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe) rs757245615
NM_001042492.3(NF1):c.7513G>A (p.Ala2505Thr) rs786202955
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524
NM_001042492.3(NF1):c.7700C>G (p.Pro2567Arg) rs754511534
NM_001042492.3(NF1):c.7724_7725dup (p.Asp2576fs) rs1597865858
NM_001042492.3(NF1):c.7923del (p.Glu2641fs) rs1597866921
NM_001042492.3(NF1):c.7971-1G>T rs1417908560
NM_001042492.3(NF1):c.8324A>G (p.Asn2775Ser) rs772090874
NM_001042492.3(NF1):c.8377+6509A>T rs1343721620
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile) rs377393842
NM_001042492.3(NF1):c.888+1G>T rs1135402799
NM_001354689.3(RAF1):c.1142G>C (p.Gly381Ala) rs397516813
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001354689.3(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_001354689.3(RAF1):c.773C>G (p.Thr258Arg) rs1575573330
NM_001354689.3(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_001374258.1(BRAF):c.1430G>A (p.Arg477Gln) rs998233805
NM_001374258.1(BRAF):c.1870C>T (p.Leu624Phe) rs1586015221
NM_001374258.1(BRAF):c.1903T>C (p.Phe635Leu) rs794729219
NM_001374258.1(BRAF):c.2254G>A (p.Ala752Thr) rs1481562268
NM_001374258.1(BRAF):c.2396G>A (p.Gly799Glu) rs1585930903
NM_001374258.1(BRAF):c.644C>T (p.Ser215Phe) rs1586237312
NM_001374258.1(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_001374258.1(BRAF):c.779G>A (p.Arg260His) rs1586213318
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_005188.3(CBL):c.1287C>T (p.Ile429=) rs148368481
NM_005633.3(SOS1):c.1385T>A (p.Phe462Tyr) rs730881043
NM_005633.3(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.3(SOS1):c.1653_1655del (p.Arg552del) rs1572830219
NM_005633.3(SOS1):c.1705C>G (p.Leu569Val) rs200786705
NM_005633.3(SOS1):c.1727G>T (p.Arg576Ile) rs1553356023
NM_005633.3(SOS1):c.233T>G (p.Phe78Cys) rs201352584
NM_006495.4(EVI2B):c.1019C>G (p.Pro340Arg) rs17884293
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869
NM_030662.3(MAP2K2):c.818A>G (p.Lys273Arg) rs539555837
NM_033360.4(KRAS):c.483= (p.Arg161=) rs4362222
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs) rs1595763925
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752

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