ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP
NM_002755.3(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002755.3(MAP2K1):c.275T>G (p.Leu92Arg) rs397516791
NM_002755.3(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002834.4(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.4(PTPN11):c.167T>C (p.Ile56Thr) rs1052382672
NM_002880.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_002880.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.6(BRAF):c.739T>G (p.Phe247Val) rs397516903
NM_004333.6(BRAF):c.740T>C (p.Phe247Ser)
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005633.3(SOS1):c.1654A>T (p.Arg552Trp) rs137852814
NM_005633.3(SOS1):c.1655G>T (p.Arg552Met) rs397517154
NM_005633.3(SOS1):c.1867T>A (p.Phe623Ile)
NM_005633.3(SOS1):c.512T>C (p.Val171Ala) rs397517174
NM_030662.3(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.3(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382

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