List of variants studied for Noonan syndrome by Mendelics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg)	rs72681869	0.00421
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val)	rs200786705	0.00019
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys)	rs201352584	0.00019
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)	rs371314838	0.00004
NM_006767.4(LZTR1):c.1785+1G>A	rs145594158	0.00001
NM_005633.4(SOS1):c.1653_1655del (p.Arg552del)	rs1572830219
NM_005633.4(SOS1):c.1727G>T (p.Arg576Ile)	rs1553356023
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His)	rs970027059
NM_006767.4(LZTR1):c.685T>C (p.Cys229Arg)	rs886041925
NM_006912.6(RIT1):c.268A>G (p.Met90Val)

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