ClinVar Miner

List of variants reported as likely pathogenic for RASopathy by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.794G>T (p.Arg265Leu) rs376607329 0.00003
NM_005633.4(SOS1):c.755T>C (p.Ile252Thr) rs142094234 0.00002
NM_002834.5(PTPN11):c.784C>T (p.Leu262Phe) rs2038442836 0.00001
NM_002880.4(RAF1):c.1922C>T (p.Thr641Met) rs587777587 0.00001
NM_002880.4(RAF1):c.770C>G (p.Ser257Trp) rs80338796 0.00001
NM_005188.4(CBL):c.1100A>G (p.Gln367Arg) rs267606704 0.00001
NM_005633.4(SOS1):c.1271A>G (p.Glu424Gly) rs730881042 0.00001
NM_005633.4(SOS1):c.1654A>T (p.Arg552Trp) rs137852814 0.00001
NM_007373.4(SHOC2):c.187G>A (p.Gly63Arg) rs1564714645 0.00001
NM_030662.4(MAP2K2):c.334C>T (p.Arg112Trp) rs201129499 0.00001
NC_000012.12:g.(?_112477651)_(112478015_?)del
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe) rs397516789
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del) rs869025339
NM_002755.4(MAP2K1):c.305A>T (p.Glu102Val) rs797044593
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.608A>C (p.Glu203Ala) rs727503996
NM_002834.5(PTPN11):c.11G>A (p.Arg4Gln) rs2499756229
NM_002834.5(PTPN11):c.1447+1G>A rs2135915222
NM_002834.5(PTPN11):c.1448-1G>A rs2038713813
NM_002834.5(PTPN11):c.1448-2A>T rs2135916018
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.171_173del (p.Gln57_Asn58delinsHis) rs2540415610
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn) rs121918460
NM_002834.5(PTPN11):c.185A>C (p.Tyr62Ser) rs1013419211
NM_002834.5(PTPN11):c.206A>C (p.Glu69Ala) rs727503380
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002834.5(PTPN11):c.217A>C (p.Thr73Pro) rs397507513
NM_002834.5(PTPN11):c.217A>G (p.Thr73Ala) rs397507513
NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys) rs397516803
NM_002834.5(PTPN11):c.237G>C (p.Gln79His) rs748952554
NM_002834.5(PTPN11):c.416A>G (p.Glu139Gly) rs2135866938
NM_002834.5(PTPN11):c.489C>T (p.Gly163=) rs2038105603
NM_002834.5(PTPN11):c.525+1G>A rs2135867567
NM_002834.5(PTPN11):c.782T>G (p.Leu261Arg) rs765642157
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly) rs2135901005
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu) rs730881003
NM_002880.4(RAF1):c.1472C>G (p.Thr491Arg) rs80338799
NM_002880.4(RAF1):c.769T>A (p.Ser257Thr) rs727505017
NM_002880.4(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_002880.4(RAF1):c.784A>C (p.Asn262His) rs1575573204
NM_002880.4(RAF1):c.784A>G (p.Asn262Asp)
NM_002880.4(RAF1):c.784A>T (p.Asn262Tyr) rs1575573204
NM_002880.4(RAF1):c.785A>G (p.Asn262Ser) rs730881010
NM_002880.4(RAF1):c.785A>T (p.Asn262Ile) rs730881010
NM_004333.6(BRAF):c.1096G>C (p.Ala366Pro) rs1038048880
NM_004333.6(BRAF):c.1505_1507dup (p.Val502dup) rs1562955153
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.6(BRAF):c.1695T>A (p.Asp565Glu) rs397507480
NM_004333.6(BRAF):c.1699T>G (p.Leu567Val) rs2536007419
NM_004333.6(BRAF):c.1786G>T (p.Gly596Cys) rs121913361
NM_004333.6(BRAF):c.722C>A (p.Thr241Lys) rs387906660
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.6(BRAF):c.740T>C (p.Phe247Ser) rs397507467
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg) rs397516904
NM_004985.5(KRAS):c.13A>C (p.Lys5Gln) rs193929331
NM_004985.5(KRAS):c.202A>G (p.Arg68Gly) rs2141509883
NM_004985.5(KRAS):c.214A>C (p.Met72Leu) rs727504662
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) rs121913530
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys) rs121913530
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_004985.5(KRAS):c.441G>T (p.Lys147Asn) rs2141505570
NM_005188.4(CBL):c.1099C>A (p.Gln367Lys) rs727504504
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn) rs267606706
NM_005188.4(CBL):c.1111T>G (p.Tyr371Asp) rs267606706
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser) rs387906666
NM_005188.4(CBL):c.1112A>T (p.Tyr371Phe) rs387906666
NM_005188.4(CBL):c.1112_1114del (p.Tyr371del) rs2135303545
NM_005188.4(CBL):c.1156G>A (p.Glu386Lys) rs1592400852
NM_005188.4(CBL):c.1193A>G (p.His398Arg) rs1303812580
NM_005188.4(CBL):c.1259G>T (p.Arg420Leu) rs267606708
NM_005633.4(SOS1):c.1296G>C (p.Trp432Cys) rs2529037917
NM_005633.4(SOS1):c.1296G>T (p.Trp432Cys)
NM_005633.4(SOS1):c.1310T>A (p.Ile437Asn) rs397517150
NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser) rs397517150
NM_005633.4(SOS1):c.1455T>G (p.Asn485Lys) rs1572830513
NM_005633.4(SOS1):c.1646C>A (p.Thr549Lys) rs730881046
NM_005633.4(SOS1):c.2105A>C (p.Tyr702Ser) rs757094189
NM_005633.4(SOS1):c.255G>C (p.Trp85Cys) rs2465361618
NM_005633.4(SOS1):c.3904A>G (p.Ile1302Val)
NM_005633.4(SOS1):c.512T>G (p.Val171Gly) rs397517174
NM_005633.4(SOS1):c.742C>T (p.Arg248Cys) rs1671008126
NM_005633.4(SOS1):c.796A>C (p.Thr266Pro) rs2124596942
NM_005633.4(SOS1):c.797C>G (p.Thr266Arg) rs137852812
NM_005633.4(SOS1):c.805A>G (p.Met269Val) rs1671005559
NM_030662.4(MAP2K2):c.190G>T (p.Val64Phe) rs730880518
NM_030662.4(MAP2K2):c.335G>A (p.Arg112Gln) rs2041142587
NM_030662.4(MAP2K2):c.335G>T (p.Arg112Leu) rs2041142587
NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_030662.4(MAP2K2):c.395G>T (p.Gly132Val) rs387906800
NM_033360.4(KRAS):c.436G>C (p.Ala146Pro) rs121913527
NM_033360.4(KRAS):c.436G>T (p.Ala146Ser) rs121913527
NM_033360.4(KRAS):c.64C>A (p.Gln22Lys) rs121913236

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