ClinVar Miner

List of variants reported as benign for Noonan syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_006912.6(RIT1):c.430-7C>T rs1749409 0.80479
NM_006270.5(RRAS):c.344+13G>A rs1368464 0.71978
NM_006270.5(RRAS):c.333C>T (p.Asn111=) rs1865077 0.71974
NM_006939.4(SOS2):c.2232C>T (p.Asn744=) rs2229869 0.60005
NM_006939.4(SOS2):c.88-6T>C rs12888783 0.31349
NM_006270.5(RRAS):c.454-10C>G rs731861 0.23663
NM_006939.4(SOS2):c.3490-18A>C rs79858475 0.14981
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201 0.02622
NM_006939.4(SOS2):c.816T>C (p.Ser272=) rs35396088 0.02130
NM_006939.4(SOS2):c.2162-4C>A rs57179949 0.00961
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230 0.00834
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194 0.00759
NM_006939.4(SOS2):c.3075+7C>T rs144391749 0.00743
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) rs61760904 0.00394
NM_006270.5(RRAS):c.408C>T (p.Pro136=) rs114187560 0.00377
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861 0.00350
NM_006939.4(SOS2):c.858+9A>G rs201701595 0.00101
NM_006939.4(SOS2):c.213+18A>T rs143888968 0.00096
NM_006270.5(RRAS):c.453+20C>T rs117957448 0.00071
NM_006270.5(RRAS):c.243C>T (p.Ile81=) rs116683551 0.00063
NM_006939.4(SOS2):c.3602A>G (p.His1201Arg) rs555945363 0.00061
NM_006939.4(SOS2):c.621C>T (p.Ile207=) rs147109760 0.00061
NM_006939.4(SOS2):c.700C>T (p.Leu234=) rs145848231 0.00053
NM_006939.4(SOS2):c.346-10C>G rs146395803 0.00046
NM_006939.4(SOS2):c.2959-20T>C rs375042033 0.00041
NM_006939.4(SOS2):c.315G>T (p.Leu105=) rs141575190 0.00027
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839 0.00020
NM_006939.4(SOS2):c.2668-13T>C rs368749459 0.00014
NM_006939.4(SOS2):c.2625A>T (p.Ala875=) rs761442415 0.00013
NM_006939.4(SOS2):c.2520A>G (p.Ala840=) rs775682587 0.00009
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=) rs201696354 0.00009
NM_006939.4(SOS2):c.2707G>A (p.Val903Met) rs745788940 0.00007
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile) rs373143128 0.00006
NM_006939.4(SOS2):c.36C>T (p.Ser12=) rs377290612 0.00006
NM_006939.4(SOS2):c.720C>T (p.Ile240=) rs373852615 0.00006
NM_006939.4(SOS2):c.121A>G (p.Asn41Asp) rs575983927 0.00005
NM_006939.4(SOS2):c.338C>T (p.Ser113Leu) rs751240491 0.00004
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr) rs935249167 0.00004
NM_006939.4(SOS2):c.3553G>T (p.Val1185Leu) rs778368766 0.00004
NM_006939.4(SOS2):c.970-19A>G rs369274700 0.00004
NM_006939.4(SOS2):c.2668-4T>C rs763298498 0.00003
NM_006939.4(SOS2):c.3641A>T (p.Asp1214Val) rs772043913 0.00002
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu) rs748480687 0.00001
NM_006939.4(SOS2):c.3502T>C (p.Ser1168Pro) rs756607027 0.00001
NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu) rs865922330 0.00001
NM_006270.5(RRAS):c.454-10dup
NM_006270.5(RRAS):c.54A>T (p.Gly18=) rs571103858
NM_006939.4(SOS2):c.1069-6dup rs756206186
NM_006939.4(SOS2):c.1197-5del
NM_006939.4(SOS2):c.1243C>T (p.Leu415=)
NM_006939.4(SOS2):c.1263T>C (p.Asn421=) rs369267864
NM_006939.4(SOS2):c.1833A>G (p.Leu611=)
NM_006939.4(SOS2):c.1935-20C>G rs376985307
NM_006939.4(SOS2):c.2057+20del rs111970905
NM_006939.4(SOS2):c.2786-18dup rs201957103
NM_006939.4(SOS2):c.2786-6del rs201957103
NM_006939.4(SOS2):c.2854G>T (p.Asp952Tyr)
NM_006939.4(SOS2):c.3151A>G (p.Thr1051Ala)
NM_006939.4(SOS2):c.3338-14del rs1362501070
NM_006939.4(SOS2):c.3380-10del rs749810829
NM_006939.4(SOS2):c.3481A>G (p.Asn1161Asp)
NM_006939.4(SOS2):c.3490-13_3490-11dup rs10658395
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.3490-13dup rs10658395
NM_006939.4(SOS2):c.3490-4del rs10658395
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup) rs765097073
NM_006939.4(SOS2):c.3813G>A (p.Pro1271=) rs2227276
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln) rs58365465
NM_006939.4(SOS2):c.3934C>A (p.Arg1312=) rs775973831
NM_006939.4(SOS2):c.3952C>G (p.Pro1318Ala)
NM_006939.4(SOS2):c.564A>G (p.Glu188=)
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser) rs61755579
NM_006939.4(SOS2):c.705T>G (p.Phe235Leu)
NM_006939.4(SOS2):c.714+14del rs2139733668
NM_006939.4(SOS2):c.859-19del
NM_006939.4(SOS2):c.859-4del rs776327707
NM_006939.4(SOS2):c.934T>C (p.Leu312=)

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