ClinVar Miner

List of variants studied for RASopathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (83):
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ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_002834.5(PTPN11):c.1224+15G>A rs373271861 0.00011
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_001042492.3(NF1):c.7322-14C>T rs377244887 0.00009
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001042492.3(NF1):c.1156A>G (p.Ile386Val) rs779930387 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val) rs745906742 0.00001
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg) rs140653372 0.00001
NM_001042492.3(NF1):c.584A>G (p.Lys195Arg) rs587778552 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_030662.4(MAP2K2):c.661G>A (p.Asp221Asn) rs2041001051 0.00001
NM_001042492.3(NF1):c.1527+1G>A rs1060500331
NM_001042492.3(NF1):c.1713G>A (p.Trp571Ter) rs863224489
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1882dup (p.Tyr628fs) rs1555613558
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2252-3T>G rs1057518842
NM_001042492.3(NF1):c.2506G>T (p.Glu836Ter) rs2067066435
NM_001042492.3(NF1):c.2618G>C (p.Arg873Pro) rs949092641
NM_001042492.3(NF1):c.2709G>A (p.Val903=) rs771820789
NM_001042492.3(NF1):c.279T>G (p.Cys93Trp) rs1597629882
NM_001042492.3(NF1):c.3113+1G>A rs267606599
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3958G>A (p.Glu1320Lys) rs1273280025
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly) rs587781755
NM_001042492.3(NF1):c.4252del (p.Ile1418fs) rs1783539066
NM_001042492.3(NF1):c.4436del (p.Phe1479fs) rs1555618803
NM_001042492.3(NF1):c.4744G>T (p.Glu1582Ter) rs1167129178
NM_001042492.3(NF1):c.479+5G>T rs1567818033
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001042492.3(NF1):c.5914dup (p.Thr1972fs) rs2069606043
NM_001042492.3(NF1):c.6819+1G>A rs1555534964
NM_001042492.3(NF1):c.68del (p.Ile23fs) rs1057518884
NM_001042492.3(NF1):c.7310C>A (p.Ala2437Asp) rs2070078591
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_002834.5(PTPN11):c.1739A>G (p.Tyr580Cys) rs2038914051
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.643-6G>A rs780387568
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.332G>A (p.Arg111His) rs996417348
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_004333.6(BRAF):c.1146G>C (p.Leu382Phe) rs1801519948
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.67A>G (p.Met23Val) rs1818671266
NM_004333.6(BRAF):c.712-221T>C rs1803141356
NM_004333.6(BRAF):c.789_790del (p.Cys264fs) rs1803104915
NM_005188.4(CBL):c.1365TGA[5] (p.Asp460del) rs397507494
NM_005188.4(CBL):c.2444A>C (p.Glu815Ala) rs1950085293
NM_005188.4(CBL):c.461T>C (p.Leu154Pro) rs1949850753
NM_005188.4(CBL):c.508C>T (p.Pro170Ser) rs1949851157
NM_005188.4(CBL):c.680C>G (p.Thr227Ser) rs1949868148
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_152594.3(SPRED1):c.1A>G (p.Met1Val) rs1894017295

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