ClinVar Miner

List of variants studied for Noonan syndrome by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
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_006767.4(LZTR1):c.2098A>G (p.Met700Val) rs755871821 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_001085049.3(MRAS):c.251C>T (p.Thr84Met)
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu) rs397507544
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr) rs1052382672
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln) rs397507511
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala) rs397507517
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.854T>C (p.Phe285Ser) rs121918463
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.779C>A (p.Thr260Lys) rs869025501
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_006767.4(LZTR1):c.1150-1G>A
NM_006767.4(LZTR1):c.1279_1284dup (p.Thr428_Leu429insCysThr)
NM_006767.4(LZTR1):c.1785+2T>C
NM_006767.4(LZTR1):c.200+1G>T
NM_006767.4(LZTR1):c.2325G>A (p.Gln775=) rs377557832
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.855C>A (p.Tyr285Ter)
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.269T>C (p.Met90Thr)

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