List of variants studied for RASopathy by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)	rs199474728	0.00001
NM_005633.4(SOS1):c.1607A>G (p.Asn536Ser)	rs1363908468	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
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)	rs786202112
NM_001042492.3(NF1):c.5872del (p.Arg1958fs)	rs2069603045
NM_001042492.3(NF1):c.7505del (p.Gly2502fs)	rs1555536358
NM_002834.5(PTPN11):c.854-14T>A	rs2038526676
NM_005633.4(SOS1):c.848T>C (p.Phe283Ser)	rs1572855029

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