ClinVar Miner

List of variants reported as uncertain significance for RASopathy by ClinGen RASopathy Variant Curation Expert Panel

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127 0.00017
NM_030662.4(MAP2K2):c.784G>A (p.Val262Ile) rs138873805 0.00014
NM_002880.4(RAF1):c.935T>C (p.Val312Ala) rs370243307 0.00010
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623 0.00006
NM_030662.4(MAP2K2):c.1112G>A (p.Arg371Gln) rs730880514 0.00006
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342 0.00005
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799 0.00005
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277 0.00004
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser) rs397517142 0.00003
NM_005633.4(SOS1):c.3703C>T (p.Pro1235Ser) rs397517168 0.00003
NM_007373.4(SHOC2):c.-1C>T rs398124252 0.00003
NM_004333.6(BRAF):c.622A>G (p.Ile208Val) rs727504571 0.00002
NM_006912.6(RIT1):c.367C>T (p.Arg123Cys) rs1213963509 0.00002
NM_002834.5(PTPN11):c.244A>G (p.Met82Val) rs397507515 0.00001
NM_002880.4(RAF1):c.835G>A (p.Asp279Asn) rs368796800 0.00001
NM_005343.4(HRAS):c.277A>G (p.Ile93Val) rs587782949 0.00001
NM_005633.4(SOS1):c.2728G>C (p.Asp910His) rs369277679 0.00001
NM_005633.4(SOS1):c.643T>C (p.Tyr215His) rs730881039 0.00001
NM_030662.4(MAP2K2):c.842G>A (p.Arg281Gln) rs1332074575 0.00001
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.5(PTPN11):c.782T>G (p.Leu261Arg) rs765642157
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.4(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_004985.5(KRAS):c.508A>T (p.Met170Leu) rs369501492
NM_005633.4(SOS1):c.1645A>G (p.Thr549Ala) rs1558474335
NM_005633.4(SOS1):c.1666G>A (p.Val556Ile) rs753909912
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_007373.4(SHOC2):c.566A>T (p.Tyr189Phe) rs1847644218
NM_030662.4(MAP2K2):c.806C>G (p.Pro269Arg) rs368064728

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