ClinVar Miner

List of variants studied for RASopathy by Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_001042492.3(NF1):c.3114-2A>G rs1428885377
NM_002755.4(MAP2K1):c.215G>A (p.Ser72Asn)
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075

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