List of variants reported as likely pathogenic for RASopathy by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)	rs199474728	0.00001
NM_001042492.3(NF1):c.15del (p.Arg5fs)	rs1057516197
NM_001042492.3(NF1):c.2010del (p.Ala671fs)	rs1597712251
NM_001042492.3(NF1):c.2329T>G (p.Trp777Gly)	rs876658853
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)	rs199474747
NM_001042492.3(NF1):c.3378_3381dup (p.Gly1128fs)	rs1597719490
NM_001042492.3(NF1):c.3708+1G>A	rs1420779915
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg)	rs1135402865

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