List of variants studied for RASopathy by Phosphorus, Inc.

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile)	rs375550588	0.00010
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln)	rs560262404	0.00003
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys)	rs191525506	0.00001
NM_005188.4(CBL):c.93C>A (p.Asp31Glu)	rs376679438	0.00001
NM_005633.4(SOS1):c.1574T>C (p.Ile525Thr)	rs146722878	0.00001
NM_006939.4(SOS2):c.2161+10A>G	rs201629454	0.00001
NM_002834.5(PTPN11):c.1599+4C>A	rs142606486
NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala)	rs1555267825

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