ClinVar Miner

List of variants studied for RASopathy by Genomic Medicine Lab, University of California San Francisco

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.1190C>T (p.Thr397Met) rs767503386 0.00002
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) rs180177042
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229

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