ClinVar Miner

List of variants studied for Noonan syndrome and Noonan-related syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_002880.4(RAF1):c.834+598G>A rs375404697 0.00009
NM_006767.4(LZTR1):c.2260A>C (p.Asn754His) rs745755957 0.00005
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1697C>T (p.Thr566Met) rs150730493 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_001085049.3(MRAS):c.212A>G (p.Gln71Arg) rs1576387885
NM_002524.5(NRAS):c.175G>A (p.Ala59Thr) rs730880965
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002709.3(PPP1CB):c.658C>T (p.Arg220Cys) rs1553311527
NM_002745.5(MAPK1):c.155C>A (p.Ala52Asp) rs2145705712
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.1205A>C (p.Lys402Thr)
NM_002834.5(PTPN11):c.1282G>C (p.Val428Leu) rs397507536
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1493G>A (p.Arg498Gln)
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu) rs397507544
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.1201C>T (p.Arg401Trp)
NM_002880.4(RAF1):c.545C>T (p.Thr182Ile)
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.6(BRAF):c.160A>G (p.Ile54Val)
NM_004333.6(BRAF):c.1714A>G (p.Ile572Val) rs755214031
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005343.4(HRAS):c.187G>A (p.Glu63Lys) rs121917756
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005633.4(SOS1):c.1393_1394delinsTT (p.Asp465Phe)
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.4(SOS1):c.2861A>C (p.Glu954Ala)
NM_005633.4(SOS1):c.3600C>A (p.Asp1200Glu) rs141594736
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr) rs397517180
NM_006270.5(RRAS):c.43C>T (p.Arg15Trp)
NM_006767.4(LZTR1):c.1667G>A (p.Ser556Asn)
NM_006767.4(LZTR1):c.1685_1702dup (p.Arg567_Gln568insLeuGluGlnLeuCysArg) rs1924752851
NM_006767.4(LZTR1):c.2325G>T (p.Gln775His)
NM_006767.4(LZTR1):c.273_274delinsAA (p.Met91_Leu92delinsIleIle)
NM_006767.4(LZTR1):c.416A>G (p.Asp139Gly)
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) rs1557962794
NM_006939.4(SOS2):c.1223A>T (p.His408Leu) rs2139630118
NM_006939.4(SOS2):c.2002A>T (p.Ile668Phe)
NM_006939.4(SOS2):c.866C>T (p.Ala289Val)
NM_012250.6(RRAS2):c.68G>A (p.Gly23Asp) rs1591495779
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) rs104894359
NM_152594.3(SPRED1):c.475del (p.Gln159fs) rs2141007796
NM_152594.3(SPRED1):c.950C>G (p.Ser317Ter)

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