List of variants studied for RASopathy by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_006767.4(LZTR1):c.1943-256C>T	rs761685529	0.00009
NM_006767.4(LZTR1):c.510-2A>G	rs1458682620	0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)	rs797045165	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_001042492.3(NF1):c.5118del (p.Val1707fs)	rs1597830046
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	rs886037952
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu)	rs730880382
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	rs104894229
NM_006767.4(LZTR1):c.401-1G>A
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile)	rs869025194
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)	rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)	rs869025194
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)	rs1591495767

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