ClinVar Miner

List of variants reported as likely pathogenic for Noonan syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00016
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) rs587777180 0.00005
NM_006767.4(LZTR1):c.1943-1G>A rs1189015572 0.00004
NM_005199.5(CHRNG):c.402del (p.Asp135fs) rs768867302 0.00003
NM_005199.5(CHRNG):c.805+1G>A rs367938116 0.00003
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539 0.00001
NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala) rs886043790 0.00001
NM_005199.5(CHRNG):c.1408C>T (p.Arg470Ter) rs121912671 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter) rs1559302834 0.00001
NM_006767.4(LZTR1):c.-38T>A rs1459786357 0.00001
NM_006767.4(LZTR1):c.263+1G>A rs761241914 0.00001
NM_002745.5(MAPK1):c.244A>G (p.Asn82Asp)
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu) rs397507536
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.2T>G (p.Met1Arg)
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter) rs2038154558
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser) rs397507475
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_005199.5(CHRNG):c.1035+2C>A
NM_005199.5(CHRNG):c.1035+2C>G
NM_005199.5(CHRNG):c.1081_1102del (p.Pro361fs) rs1559304988
NM_005199.5(CHRNG):c.11dup (p.Gln5fs)
NM_005199.5(CHRNG):c.1256_1263del (p.Gly419fs)
NM_005199.5(CHRNG):c.1354del (p.Arg452fs)
NM_005199.5(CHRNG):c.1380+1G>A
NM_005199.5(CHRNG):c.145del (p.Asp49fs)
NM_005199.5(CHRNG):c.166A>T (p.Lys56Ter)
NM_005199.5(CHRNG):c.240+1del rs777809198
NM_005199.5(CHRNG):c.246G>A (p.Trp82Ter)
NM_005199.5(CHRNG):c.249C>A (p.Cys83Ter)
NM_005199.5(CHRNG):c.2T>C (p.Met1Thr)
NM_005199.5(CHRNG):c.350+2T>C
NM_005199.5(CHRNG):c.493_494delinsCAGTGAGGCCATTTATTGGGGAGG (p.Ser165delinsGlnTer)
NM_005199.5(CHRNG):c.532_533del (p.Glu177_Ile178insTer) rs2469750351
NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys) rs1574645121
NM_005199.5(CHRNG):c.754del (p.Cys252fs)
NM_005199.5(CHRNG):c.920+2_920+5del
NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser) rs397517150
NM_005633.4(SOS1):c.253T>C (p.Trp85Arg) rs730881054
NM_005633.4(SOS1):c.3248dup (p.Arg1084fs) rs387906518
NM_006767.4(LZTR1):c.104C>A (p.Ser35Ter)
NM_006767.4(LZTR1):c.2244C>G (p.Tyr748Ter) rs1682503990
NM_006767.4(LZTR1):c.421del (p.Tyr141fs)
NM_006767.4(LZTR1):c.423T>G (p.Tyr141Ter) rs141357465
NM_006767.4(LZTR1):c.649G>T (p.Glu217Ter) rs1302923931
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) rs869025191

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