List of variants in gene PTPN11 studied for Noonan syndrome 3

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)	rs397507549
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)	rs121918470
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys)	rs397507506
NM_002834.5(PTPN11):c.181G>C (p.Asp61His)	rs397507510
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val)	rs727503380
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu)	rs397507512
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	rs121918454
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	rs121918466
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys)	rs397507518
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)	rs397507531
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu)	rs397516810
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455

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