ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome and Noonan-related syndrome by Baylor Genetics

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00205
NM_006767.4(LZTR1):c.594-3C>T rs373968693 0.00015
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln) rs142218590 0.00007
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe) rs1026930115 0.00007
NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser) rs368649599 0.00005
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261 0.00003
NM_006767.4(LZTR1):c.2173C>T (p.Arg725Cys) rs778626874 0.00002
NM_006767.4(LZTR1):c.508C>T (p.Arg170Trp) rs757502214 0.00002
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012 0.00001
NM_005199.5(CHRNG):c.137G>A (p.Arg46Gln) rs755148348 0.00001
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr) rs727504496 0.00001
NM_005633.4(SOS1):c.1271A>G (p.Glu424Gly) rs730881042 0.00001
NM_005633.4(SOS1):c.1681G>A (p.Glu561Lys) rs1393222137 0.00001
NM_005633.4(SOS1):c.3352G>T (p.Asp1118Tyr) rs1276062555 0.00001
NM_005633.4(SOS1):c.3370G>A (p.Val1124Ile) rs1342428273 0.00001
NM_006767.4(LZTR1):c.1254G>C (p.Arg418Ser) rs746064505 0.00001
NM_006767.4(LZTR1):c.2437A>C (p.Ser813Arg) rs1311281590 0.00001
NM_006767.4(LZTR1):c.59C>T (p.Ala20Val) rs770762358 0.00001
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784 0.00001
NM_006939.4(SOS2):c.3347G>A (p.Ser1116Asn) rs1164424709 0.00001
NM_152594.3(SPRED1):c.6C>A (p.Ser2Arg) rs775693385 0.00001
NM_002755.4(MAP2K1):c.370C>A (p.Pro124Thr) rs1057519732
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val) rs1566164987
NM_002834.5(PTPN11):c.1678C>G (p.Leu560Val) rs397516797
NM_002880.4(RAF1):c.949_950delinsCT (p.Glu317Leu) rs2470303879
NM_004333.6(BRAF):c.1699T>G (p.Leu567Val) rs2536007419
NM_005343.4(HRAS):c.134T>A (p.Val45Asp) rs1028352031
NM_005343.4(HRAS):c.386A>G (p.Gln129Arg) rs1851242529
NM_005343.4(HRAS):c.427G>C (p.Glu143Gln) rs909222512
NM_005633.4(SOS1):c.196A>G (p.Ser66Gly) rs2465395173
NM_005633.4(SOS1):c.23A>T (p.Tyr8Phe) rs781093356
NM_005633.4(SOS1):c.3092A>G (p.Tyr1031Cys) rs1668861106
NM_005633.4(SOS1):c.3959A>C (p.His1320Pro) rs1404062370
NM_005633.4(SOS1):c.829C>A (p.Pro277Thr) rs1057517871
NM_006767.4(LZTR1):c.1254G>T (p.Arg418Ser) rs746064505
NM_006767.4(LZTR1):c.2070-12C>A rs779677120
NM_006767.4(LZTR1):c.2509G>A (p.Gly837Ser) rs1924904363
NM_006767.4(LZTR1):c.272T>C (p.Met91Thr) rs1555927321
NM_006767.4(LZTR1):c.322G>A (p.Ala108Thr) rs1358951592
NM_006767.4(LZTR1):c.58G>A (p.Ala20Thr) rs1924227635
NM_006939.4(SOS2):c.3380-3_3380-2del rs1883462827
NM_006939.4(SOS2):c.574A>G (p.Ser192Gly) rs1886005265
NM_007373.4(SHOC2):c.1159A>G (p.Lys387Glu) rs1848438761
NM_007373.4(SHOC2):c.506_507delinsC (p.Lys169fs) rs1847643137
NM_007373.4(SHOC2):c.52G>C (p.Val18Leu) rs1226932309
NM_007373.4(SHOC2):c.836C>T (p.Thr279Ile) rs1848065186
NM_030662.4(MAP2K2):c.1042A>G (p.Lys348Glu) rs1460336485
NM_030662.4(MAP2K2):c.300G>T (p.Arg100Ser) rs2041236830
NM_152594.3(SPRED1):c.382C>G (p.Pro128Ala) rs1895677013

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