ClinVar Miner

List of variants reported as not provided for RASopathy

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_000267.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_000267.3(NF1):c.7486C>T (p.Arg2496Ter) rs866445127
NM_002524.5(NRAS):c.317C>T (p.Ser106Leu) rs797045795
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.4(PTPN11):c.785T>G (p.Leu262Arg) rs397507526
NM_002834.4(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
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.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004985.5(KRAS):c.347A>G (p.Asn116Ser) rs202247812
NM_005188.3(CBL):c.1463C>T (p.Ala488Val) rs377502790
NM_005188.3(CBL):c.1711G>A (p.Asp571Asn) rs483352825
NM_005188.3(CBL):c.2345C>T (p.Pro782Leu) rs2229073
NM_005633.3(SOS1):c.2138G>A (p.Arg713Gln) rs483352826
NM_005633.3(SOS1):c.3347-1G>A rs141565234
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006939.4(SOS2):c.3530C>T (p.Pro1177Leu) rs1566814839
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_030662.3(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_033360.4(KRAS):c.512T>C (p.Ile171Thr) rs1057517885

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