ClinVar Miner

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

Included ClinVar conditions (43):
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ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.594-3C>T rs373968693 0.00015
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe) rs1026930115 0.00009
NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser) rs368649599 0.00006
NM_006767.4(LZTR1):c.508C>T (p.Arg170Trp) rs757502214 0.00003
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_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_002880.4(RAF1):c.949_950delinsCT (p.Glu317Leu)
NM_004333.6(BRAF):c.1699T>G (p.Leu567Val)
NM_005633.4(SOS1):c.196A>G (p.Ser66Gly)
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.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.3347G>A (p.Ser1116Asn)
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

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