ClinVar Miner

List of variants reported as not provided for RASopathy

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445 0.82029
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526 0.81965
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_005633.4(SOS1):c.3347-1G>A rs141565234 0.00017
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His) rs546073780 0.00006
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile) rs145191978 0.00005
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724 0.00003
NM_005188.4(CBL):c.1463C>T (p.Ala488Val) rs377502790 0.00002
NM_005633.4(SOS1):c.2138G>A (p.Arg713Gln) rs483352826 0.00002
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln) rs1350468182 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 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_005188.4(CBL):c.1096-1G>T rs397517076 0.00001
NM_005343.4(HRAS):c.398T>A (p.Leu133His) rs766801436 0.00001
NM_006767.4(LZTR1):c.1912C>T (p.Arg638Cys) rs1213535694 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_001042492.3(NF1):c.1185+2T>G rs1555611043
NM_001042492.3(NF1):c.1801_1803del (p.Arg601del) rs1555613421
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.1954C>T (p.Arg652Cys) rs786202436
NM_001042492.3(NF1):c.2131C>T (p.Arg711Cys) rs1400902839
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2989A>G (p.Arg997Gly) rs2067085335
NM_001042492.3(NF1):c.3238C>G (p.Leu1080Val) rs1555614832
NM_001042492.3(NF1):c.3544G>T (p.Val1182Phe) rs1555615027
NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser) rs786202492
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu) rs1567863004
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp) rs1060500316
NM_001042492.3(NF1):c.5327C>G (p.Ser1776Ter) rs2069376973
NM_001042492.3(NF1):c.5488C>A (p.Arg1830Ser) rs797045139
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly) rs797045139
NM_001042492.3(NF1):c.5489G>C (p.Arg1830Pro) rs771529172
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu) rs2070328290
NM_001042492.3(NF1):c.872A>C (p.Glu291Ala) rs876660171
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) rs180177042
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) rs397514553
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.317C>T (p.Ser106Leu) rs797045795
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn) rs869025573
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.305A>G (p.Glu102Gly) rs797044593
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.374A>G (p.Tyr125Cys) rs1595861880
NM_002755.4(MAP2K1):c.388T>A (p.Tyr130Asn) rs397516793
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.179_181del (p.Gly60del) rs80338836
NM_002834.5(PTPN11):c.181_183del (p.Asp61del) rs869025574
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.785T>G (p.Leu262Arg) rs397507526
NM_002834.5(PTPN11):c.836A>C (p.Tyr279Ser) rs121918456
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.1456G>A (p.Asp486Asn) rs80338798
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_004333.6(BRAF):c.1399T>G (p.Ser467Ala) rs869025606
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1408_1410del (p.Thr470del) rs869025607
NM_004333.6(BRAF):c.1447A>C (p.Lys483Gln) rs397507474
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala) rs180177039
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) rs113488022
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) rs397507484
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004985.5(KRAS):c.451-5588T>C rs1057517885
NM_005188.4(CBL):c.1711G>A (p.Asp571Asn) rs483352825
NM_006767.4(LZTR1):c.2284C>T (p.Gln762Ter) rs1924868328
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006939.4(SOS2):c.3530C>T (p.Pro1177Leu) rs1566814839
NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys) rs121434497
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517
NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln) rs267607230
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_033360.4(KRAS):c.347A>G (p.Asn116Ser) rs202247812
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471

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