List of variants reported as pathogenic for Noonan syndrome and Noonan-related syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	rs189150283	0.00007
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)	rs397507541	0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	rs397507529	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)	rs727504317
NM_002755.4(MAP2K1):c.383G>C (p.Gly128Ala)	rs121908596
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)	rs397507542
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)	rs397507545
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	rs267606990
NM_004333.6(BRAF):c.1454T>G (p.Leu485Trp)	rs397507475
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro)	rs869025340
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	rs387906660
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)	rs727503110

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