ClinVar Miner

List of variants reported as uncertain significance for RASopathy by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531 0.00002
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys) rs369493270 0.00001
NM_002880.4(RAF1):c.31A>T (p.Ile11Phe) rs779001930 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_001042492.3(NF1):c.5503C>A (p.Gln1835Lys)
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His) rs1555534432
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.4(RAF1):c.161C>A (p.Thr54Lys) rs754798801
NM_004333.6(BRAF):c.1897T>C (p.Tyr633His) rs746010267
NM_005633.4(SOS1):c.1379A>G (p.His460Arg)
NM_005633.4(SOS1):c.3391+5G>C rs1668654438
NM_006939.4(SOS2):c.2220A>T (p.Gln740His) rs576277421

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