ClinVar Miner

List of variants reported as benign by ClinGen RASopathy Variant Curation Expert Panel

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ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_030662.4(MAP2K2):c.660C>A (p.Ile220=) rs10250 0.42547
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628 0.34645
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696 0.30796
NM_004985.5(KRAS):c.519T>C (p.Asp173=) rs1137282 0.19563
NM_030662.4(MAP2K2):c.453C>T (p.Asp151=) rs17851657 0.13902
NM_002755.4(MAP2K1):c.1023-8C>T rs41306345 0.09409
NM_030662.4(MAP2K2):c.192C>T (p.Val64=) rs8157 0.06496
NM_030662.4(MAP2K2):c.405G>C (p.Gly135=) rs10424722 0.04706
NM_005633.4(SOS1):c.195A>C (p.Arg65=) rs7609455 0.03809
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_002880.4(RAF1):c.1755A>G (p.Val585=) rs3730296 0.02125
NM_007373.4(SHOC2):c.457C>T (p.Leu153=) rs34081996 0.01281
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01226
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_002834.5(PTPN11):c.854-32A>C rs187389813 0.00867
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_002880.4(RAF1):c.1941C>T (p.Val647=) rs3730297 0.00729
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00571
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534 0.00423
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404 0.00399
NM_002755.4(MAP2K1):c.927A>T (p.Ala309=) rs146869577 0.00357
NM_005633.4(SOS1):c.2997T>C (p.Asn999=) rs145364368 0.00352
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 0.00318
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_030662.4(MAP2K2):c.846C>T (p.Pro282=) rs11539506 0.00282
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_007373.4(SHOC2):c.1302C>T (p.Asn434=) rs146147503 0.00262
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409 0.00222
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_005633.4(SOS1):c.2988G>A (p.Pro996=) rs35462677 0.00156
NM_004985.5(KRAS):c.-160A>G rs727503111 0.00124
NM_002755.4(MAP2K1):c.648C>T (p.Ile216=) rs148968935 0.00123
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454 0.00121
NM_004333.6(BRAF):c.1433-19A>G rs369635503 0.00114
NM_002755.4(MAP2K1):c.1137C>T (p.Ile379=) rs150841154 0.00103
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_005633.4(SOS1):c.2238T>C (p.Asn746=) rs75877625 0.00084
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser) rs139592595 0.00082
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=) rs139404261 0.00076
NM_030662.4(MAP2K2):c.603C>T (p.Leu201=) rs148291450 0.00072
NM_030662.4(MAP2K2):c.823C>T (p.Leu275=) rs145934142 0.00070
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980 0.00070
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602 0.00068
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_030662.4(MAP2K2):c.1093-6T>C rs369681843 0.00065
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_002755.4(MAP2K1):c.315C>T (p.Pro105=) rs144166521 0.00061
NM_030662.4(MAP2K2):c.1074G>A (p.Ala358=) rs140896887 0.00059
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_030662.4(MAP2K2):c.303+8C>G rs199612401 0.00054
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_005633.4(SOS1):c.2760G>A (p.Arg920=) rs149092581 0.00051
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_030662.4(MAP2K2):c.893C>T (p.Pro298Leu) rs200371894 0.00034
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546 0.00030
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val) rs144080051 0.00029
NM_002880.4(RAF1):c.212A>G (p.Asn71Ser) rs184022679 0.00029
NM_030662.4(MAP2K2):c.525C>T (p.Ile175=) rs150833333 0.00029
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_030662.4(MAP2K2):c.1194C>T (p.Thr398=) rs144850779 0.00024
NM_005633.4(SOS1):c.1770G>A (p.Glu590=) rs553331572 0.00022
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051 0.00019
NM_005633.4(SOS1):c.*4C>T rs188849286 0.00018
NM_002880.4(RAF1):c.119G>A (p.Arg40His) rs192632236 0.00016
NM_030662.4(MAP2K2):c.420C>T (p.Asp140=) rs369925884 0.00016
NM_002880.4(RAF1):c.1587G>A (p.Ser529=) rs114687276 0.00014
NM_002880.4(RAF1):c.94A>G (p.Ile32Val) rs372738063 0.00013
NM_005633.4(SOS1):c.3072C>T (p.Leu1024=) rs558386297 0.00013
NM_004333.6(BRAF):c.968C>T (p.Ser323Leu) rs397516907 0.00012
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454 0.00011
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_030662.4(MAP2K2):c.1020C>T (p.Pro340=) rs192389729 0.00009
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202 0.00008
NM_005633.4(SOS1):c.2010G>C (p.Leu670Phe) rs200712930 0.00008
NM_030662.4(MAP2K2):c.825G>A (p.Leu275=) rs587781027 0.00007
NM_005343.4(HRAS):c.369C>T (p.Arg123=) rs200945755 0.00006
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser) rs190222208 0.00006
NM_030662.4(MAP2K2):c.690G>A (p.Thr230=) rs201287884 0.00005
NM_004333.6(BRAF):c.1150A>G (p.Arg384Gly) rs545495379 0.00004
NM_005343.4(HRAS):c.309G>A (p.Val103=) rs575789207 0.00004
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144 0.00004
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467 0.00003
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692 0.00003
NM_005633.4(SOS1):c.141T>C (p.Tyr47=) rs201649682 0.00003
NM_007373.4(SHOC2):c.886C>T (p.Leu296=) rs199723694 0.00003
NM_030662.4(MAP2K2):c.141C>T (p.Asp47=) rs201526172 0.00003
NM_002880.4(RAF1):c.1668+4A>G rs771344560 0.00002
NM_002880.4(RAF1):c.639T>C (p.Thr213=) rs397516823 0.00002
NM_005633.4(SOS1):c.1772A>G (p.Asn591Ser) rs757213444 0.00002
NM_007373.4(SHOC2):c.894A>C (p.Ala298=) rs767912952 0.00002
NM_002755.4(MAP2K1):c.804C>G (p.Ala268=) rs371652992 0.00001
NM_002834.5(PTPN11):c.1028G>A (p.Arg343Gln) rs535800148 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_002834.5(PTPN11):c.951G>A (p.Lys317=) rs576405446 0.00001
NM_002880.4(RAF1):c.1141G>A (p.Asp381Asn) rs559632360 0.00001
NM_002880.4(RAF1):c.1914G>A (p.Thr638=) rs144876026 0.00001
NM_004333.6(BRAF):c.976A>G (p.Ile326Val) rs775040765 0.00001
NM_005343.4(HRAS):c.378A>G (p.Glu126=) rs397517140 0.00001
NM_005633.4(SOS1):c.3552T>G (p.Pro1184=) rs200485215 0.00001
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.438+8A>T rs550240942
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002880.3(RAF1):c.-340_-339GA[1] rs527774250
NM_002880.4(RAF1):c.-204G>C rs547543588
NM_002880.4(RAF1):c.-267G>A rs116247741
NM_002880.4(RAF1):c.1108+9_1108+21del rs727504451
NM_002880.4(RAF1):c.1629G>A (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del) rs397517043
NM_005343.4(HRAS):c.291-6T>G rs766909143
NM_030662.4(MAP2K2):c.225C>T (p.Ile75=) rs561400866
NM_030662.4(MAP2K2):c.291C>A (p.Ile97=) rs200918323
NM_030662.4(MAP2K2):c.546G>A (p.Ala182=) rs141402203
NM_176795.5(HRAS):c.488_507del (p.Leu163fs) rs776060230

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