ClinVar Miner

List of variants studied for Noonan syndrome 6 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_002524.5(NRAS):c.*872C>T rs14804 0.20324
NM_002524.5(NRAS):c.*687A>G rs9724644 0.02952
NM_002524.5(NRAS):c.*2662G>A rs148827219 0.02701
NM_002524.5(NRAS):c.*2667T>C rs145382662 0.02698
NM_002524.5(NRAS):c.*416A>C rs9724643 0.01360
NM_002524.5(NRAS):c.-50A>G rs61758211 0.00647
NM_002524.5(NRAS):c.*3499C>T rs147926293 0.00568
NM_002524.5(NRAS):c.*3366G>T rs72994440 0.00380
NM_002524.5(NRAS):c.*3219C>G rs72994441 0.00379
NM_002524.5(NRAS):c.*2523A>G rs143441947 0.00163
NM_002524.5(NRAS):c.*3404T>C rs185234485 0.00145
NM_002524.5(NRAS):c.*2517A>G rs554048037 0.00142
NM_002524.5(NRAS):c.*3306A>G rs189738278 0.00124
NM_002524.5(NRAS):c.225C>T (p.Gly75=) rs142739534 0.00123
NM_002524.5(NRAS):c.*2805T>C rs776606789 0.00100
NM_002524.5(NRAS):c.*2513T>A rs150969241 0.00091
NM_002524.5(NRAS):c.*3384C>T rs140049110 0.00091
NM_002524.5(NRAS):c.*2618A>G rs528439389 0.00058
NM_002524.5(NRAS):c.360G>A (p.Leu120=) rs143020946 0.00034
NM_002524.5(NRAS):c.*2464A>G rs140878667 0.00029
NM_002524.5(NRAS):c.112-8A>G rs9724626 0.00025
NM_002524.5(NRAS):c.*2844T>A rs530053161 0.00022
NM_002524.5(NRAS):c.*583T>G rs555171083 0.00022
NM_002524.5(NRAS):c.*2784T>A rs374889066 0.00021
NM_002524.5(NRAS):c.-106G>T rs755583487 0.00020
NM_002524.5(NRAS):c.*111A>G rs188272768 0.00019
NM_002524.5(NRAS):c.*344A>G rs746680042 0.00014
NM_002524.5(NRAS):c.*2546C>T rs778203603 0.00013
NM_002524.5(NRAS):c.*2816T>C rs370262800 0.00011
NM_002524.5(NRAS):c.*2630G>A rs886045102 0.00009
NM_002524.5(NRAS):c.*2327C>T rs533027827 0.00008
NM_002524.5(NRAS):c.*740G>A rs372008962 0.00007
NM_002524.5(NRAS):c.*2767C>T rs766572336 0.00006
NM_002524.5(NRAS):c.*651C>T rs754089086 0.00006
NM_002524.5(NRAS):c.36T>G (p.Gly12=) rs759764705 0.00006
NM_002524.5(NRAS):c.*3062C>T rs886045098 0.00005
NM_002524.5(NRAS):c.*1629C>G rs776223586 0.00004
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873 0.00003
NM_002524.5(NRAS):c.*1509A>G rs141713248 0.00002
NM_002524.5(NRAS):c.*1914A>G rs967317719 0.00002
NM_002524.5(NRAS):c.*1466A>T rs374183050 0.00001
NM_002524.5(NRAS):c.*1571A>G rs1457248724 0.00001
NM_002524.5(NRAS):c.*1974T>C rs1658914654 0.00001
NM_002524.5(NRAS):c.*2188C>A rs1249096456 0.00001
NM_002524.5(NRAS):c.*3103G>T rs1290377688 0.00001
NM_002524.5(NRAS):c.*3341A>T rs1658865519 0.00001
NM_002524.5(NRAS):c.*340G>A rs1176222040 0.00001
NM_002524.5(NRAS):c.*3500G>A rs528970050 0.00001
NM_002524.5(NRAS):c.*536C>T rs886045108 0.00001
NM_002524.5(NRAS):c.*774A>G rs886045107 0.00001
NM_002524.5(NRAS):c.112-6C>G rs200604652 0.00001
NM_002524.5(NRAS):c.250A>G (p.Ile84Val) rs376177995 0.00001
NM_002524.5(NRAS):c.*1105C>T rs1658933470
NM_002524.5(NRAS):c.*1382G>T rs886045105
NM_002524.5(NRAS):c.*1643G>C rs571329214
NM_002524.5(NRAS):c.*1656C>T rs886045104
NM_002524.5(NRAS):c.*1845T>C rs1480696185
NM_002524.5(NRAS):c.*1887T>C rs1658917145
NM_002524.5(NRAS):c.*1936C>G rs1658915425
NM_002524.5(NRAS):c.*2178G>A rs886045103
NM_002524.5(NRAS):c.*2226G>C rs1658900816
NM_002524.5(NRAS):c.*2328G>A rs1201037392
NM_002524.5(NRAS):c.*2412G>A rs757692247
NM_002524.5(NRAS):c.*2589G>A rs556142436
NM_002524.5(NRAS):c.*2677A>T rs886045101
NM_002524.5(NRAS):c.*2714G>T rs886045100
NM_002524.5(NRAS):c.*2811C>A rs1658883840
NM_002524.5(NRAS):c.*2860G>A rs886045099
NM_002524.5(NRAS):c.*3020A>G rs550638204
NM_002524.5(NRAS):c.*3362T>C rs577115849
NM_002524.5(NRAS):c.*3392T>C rs886045097
NM_002524.5(NRAS):c.*3430T>A rs539638523
NM_002524.5(NRAS):c.*346G>A rs9724642
NM_002524.5(NRAS):c.380C>G (p.Thr127Arg) rs779899354

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