ClinVar Miner

Variants with conflicting interpretations "benign" from ClinGen RASopathy Variant Curation Expert Panel and "likely benign" from any submitter

Minimum review status of the submission from ClinGen RASopathy Variant Curation Expert Panel: Collection method of the submission from ClinGen RASopathy Variant Curation Expert Panel:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 26
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HGVS dbSNP
NM_001354689.3(RAF1):c.1168+9_1168+21del rs727504451
NM_001354689.3(RAF1):c.1201G>A (p.Asp401Asn) rs559632360
NM_001354689.3(RAF1):c.1689G>C (p.Thr563=) rs5746244
NM_001354689.3(RAF1):c.1728+4A>G rs771344560
NM_001354689.3(RAF1):c.212A>G (p.Asn71Ser) rs184022679
NM_001354689.3(RAF1):c.639T>C (p.Thr213=) rs397516823
NM_002834.4(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206
NM_004333.6(BRAF):c.1150A>G (p.Arg384Gly) rs545495379
NM_004333.6(BRAF):c.976A>G (p.Ile326Val) rs775040765
NM_004985.5(KRAS):c.528GAA[1] (p.Lys180del) rs397517043
NM_005633.3(SOS1):c.1772A>G (p.Asn591Ser) rs757213444
NM_005633.3(SOS1):c.2010G>C (p.Leu670Phe) rs200712930
NM_005633.3(SOS1):c.2371C>A (p.Leu791Ile) rs142004123
NM_005633.3(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005633.3(SOS1):c.73C>T (p.Pro25Ser) rs139592595
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_030662.3(MAP2K2):c.291C>A (p.Ile97=) rs200918323
NM_030662.3(MAP2K2):c.546G>A (p.Ala182=) rs141402203
NM_030662.3(MAP2K2):c.825G>A (p.Leu275=) rs587781027
NM_030662.4(MAP2K2):c.1093-6T>C rs369681843
NM_030662.4(MAP2K2):c.1194C>T (p.Thr398=) rs144850779
NM_030662.4(MAP2K2):c.525C>T (p.Ile175=) rs150833333
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980

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