ClinVar Miner

List of variants studied for Noonan syndrome and Noonan-related syndrome by Mendelics

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys) rs201352584 0.00019
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_030662.4(MAP2K2):c.818A>G (p.Lys273Arg) rs539555837 0.00003
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.4(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_002880.4(RAF1):c.773C>G (p.Thr258Arg) rs1575573330
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_004333.6(BRAF):c.1310G>A (p.Arg437Gln) rs998233805
NM_004333.6(BRAF):c.1750C>T (p.Leu584Phe) rs1586015221
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.6(BRAF):c.2134G>A (p.Ala712Thr) rs1481562268
NM_004333.6(BRAF):c.2276G>A (p.Gly759Glu) rs1585930903
NM_004333.6(BRAF):c.644C>T (p.Ser215Phe) rs1586237312
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004333.6(BRAF):c.779G>A (p.Arg260His) rs1586213318
NM_005633.4(SOS1):c.1653_1655del (p.Arg552del) rs1572830219
NM_005633.4(SOS1):c.1727G>T (p.Arg576Ile) rs1553356023
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His) rs970027059
NM_006767.4(LZTR1):c.685T>C (p.Cys229Arg) rs886041925
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs) rs1595763925
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752

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