List of variants in gene PTPN11 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.526-8C>A	rs184804143	0.00064
NM_002834.5(PTPN11):c.1224+15G>A	rs373271861	0.00011
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)	rs201247699	0.00002
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)	rs397507541	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)	rs397507542
NM_002834.5(PTPN11):c.1739A>G (p.Tyr580Cys)	rs2038914051
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)	rs397507509
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)	rs121918461
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	rs397507520
NM_002834.5(PTPN11):c.643-6G>A	rs780387568
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	rs121918456
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455

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