List of variants in gene PTPN11 studied for Noonan syndrome with multiple lentigines

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.*1006del	rs146940557	0.05739
NM_002834.5(PTPN11):c.*2731G>A	rs768622106	0.00013
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	0.00001
NM_002834.5(PTPN11):c.*1157ATG[13]	rs80269561
NM_002834.5(PTPN11):c.*1157ATG[14]	rs80269561
NM_002834.5(PTPN11):c.*1157ATG[16]	rs80269561
NM_002834.5(PTPN11):c.*1157ATG[17]	rs80269561
NM_002834.5(PTPN11):c.41_46del	rs886048967
NM_002834.5(PTPN11):c.*656del	rs886048968
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)	rs121918468
NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser)	rs121918468
NM_002834.5(PTPN11):c.1402A>C (p.Thr468Pro)	rs397507537
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)	rs397507542
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)	rs397507548
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)	rs121918470
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro)	rs121918453
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys)	rs397507527
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	rs121918456
NM_002834.5(PTPN11):c.934-59T>A

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