ClinVar Miner

List of variants studied for RASopathy by Blueprint Genetics,

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_001081563.2(DMPK):c.2T>C (p.Met1Thr) rs752437441
NM_002834.4(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.4(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.4(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.4(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.4(PTPN11):c.893A>G (p.Asn298Ser) rs572274623
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.3(RAF1):c.1172G>T (p.Arg391Met) rs587782972
NM_002880.3(RAF1):c.452T>C (p.Phe151Ser) rs587782971
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_004333.5(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_004333.5(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_005188.3(CBL):c.2519G>C (p.Cys840Ser) rs376536789
NM_005633.3(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.3(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048

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