ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome 8 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_006912.6(RIT1):c.38G>A (p.Ser13Asn) rs145034964 0.00012
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp) rs563231684 0.00009
NM_006912.6(RIT1):c.341T>A (p.Phe114Tyr) rs745807905 0.00004
NM_006912.6(RIT1):c.635G>A (p.Arg212Gln) rs764347644 0.00004
NM_006912.6(RIT1):c.506A>G (p.Tyr169Cys) rs763208084 0.00003
NM_006912.6(RIT1):c.367C>T (p.Arg123Cys) rs1213963509 0.00002
NM_006912.6(RIT1):c.368G>A (p.Arg123His) rs977405637 0.00002
NM_006912.6(RIT1):c.646G>A (p.Asp216Asn) rs545031201 0.00002
NM_006912.6(RIT1):c.13A>T (p.Thr5Ser) rs771768320 0.00001
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu) rs747376042 0.00001
NM_006912.6(RIT1):c.163+6C>A rs1157450415 0.00001
NM_006912.6(RIT1):c.208A>T (p.Asn70Tyr) rs1394425355 0.00001
NM_006912.6(RIT1):c.257G>A (p.Arg86Gln) rs1185965337 0.00001
NM_006912.6(RIT1):c.326A>G (p.His109Arg) rs1407666045 0.00001
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784 0.00001
NM_006912.6(RIT1):c.35G>A (p.Cys12Tyr) rs1177306699 0.00001
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln) rs754596127 0.00001
NM_006912.6(RIT1):c.46G>A (p.Ala16Thr) rs1131692009 0.00001
NM_006912.6(RIT1):c.500A>G (p.Tyr167Cys) rs1372704169 0.00001
NM_006912.6(RIT1):c.539G>A (p.Arg180Gln) rs760845441 0.00001
NM_006912.6(RIT1):c.548G>A (p.Arg183His) rs1673291082 0.00001
NM_006912.6(RIT1):c.575C>T (p.Ala192Val) rs376391961 0.00001
NC_000001.10:g.(?_155581953)_(155880552_?)del
NC_000001.10:g.(?_155870159)_(155880696_?)dup
NC_000001.10:g.(?_155870179)_(155874615_?)dup
NC_000001.10:g.(?_155870179)_(155880552_?)dup
NC_000001.10:g.(?_155874092)_(155880686_?)dup
NC_000001.10:g.(?_155877093)_(155880300_?)del
NC_000001.10:g.(?_155880221)_(156109650_?)del
NM_006912.6(RIT1):c.10G>C (p.Gly4Arg) rs2102591257
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala) rs1557962699
NM_006912.6(RIT1):c.116T>A (p.Met39Lys) rs2102590945
NM_006912.6(RIT1):c.11G>A (p.Gly4Glu) rs2102591253
NM_006912.6(RIT1):c.125T>C (p.Ile42Thr)
NM_006912.6(RIT1):c.128G>C (p.Ser43Thr)
NM_006912.6(RIT1):c.133C>G (p.Arg45Gly)
NM_006912.6(RIT1):c.134G>T (p.Arg45Leu) rs1673569021
NM_006912.6(RIT1):c.139C>A (p.Pro47Thr)
NM_006912.6(RIT1):c.145G>C (p.Asp49His) rs2102590904
NM_006912.6(RIT1):c.146A>T (p.Asp49Val)
NM_006912.6(RIT1):c.14C>T (p.Thr5Ile)
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) rs869025190
NM_006912.6(RIT1):c.153T>A (p.Asp51Glu)
NM_006912.6(RIT1):c.153T>G (p.Asp51Glu) rs1571999275
NM_006912.6(RIT1):c.162T>A (p.Ile54=)
NM_006912.6(RIT1):c.163+5G>T rs1673568021
NM_006912.6(RIT1):c.17G>C (p.Arg6Pro)
NM_006912.6(RIT1):c.206C>A (p.Ala69Asp)
NM_006912.6(RIT1):c.211C>G (p.Leu71Val)
NM_006912.6(RIT1):c.212_213del (p.Leu71fs)
NM_006912.6(RIT1):c.229_234dup (p.Ala77_Gly78dup) rs1673399028
NM_006912.6(RIT1):c.22G>T (p.Val8Phe)
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006912.6(RIT1):c.238-2dup rs1298539810
NM_006912.6(RIT1):c.23T>C (p.Val8Ala)
NM_006912.6(RIT1):c.253A>G (p.Met85Val)
NM_006912.6(RIT1):c.256C>T (p.Arg86Trp)
NM_006912.6(RIT1):c.274G>T (p.Ala92Ser)
NM_006912.6(RIT1):c.29G>C (p.Ser10Thr)
NM_006912.6(RIT1):c.304A>G (p.Ile102Val) rs886041962
NM_006912.6(RIT1):c.309G>A (p.Thr103=) rs370396152
NM_006912.6(RIT1):c.310G>A (p.Asp104Asn)
NM_006912.6(RIT1):c.313C>T (p.Arg105Cys)
NM_006912.6(RIT1):c.326A>T (p.His109Leu) rs1407666045
NM_006912.6(RIT1):c.335G>A (p.Arg112His)
NM_006912.6(RIT1):c.338A>T (p.Glu113Val)
NM_006912.6(RIT1):c.340T>C (p.Phe114Leu)
NM_006912.6(RIT1):c.359G>A (p.Arg120Gln)
NM_006912.6(RIT1):c.374A>G (p.Asp125Gly)
NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)
NM_006912.6(RIT1):c.379A>G (p.Thr127Ala)
NM_006912.6(RIT1):c.401A>G (p.Asn134Ser)
NM_006912.6(RIT1):c.413T>G (p.Leu138Arg)
NM_006912.6(RIT1):c.417A>T (p.Lys139Asn)
NM_006912.6(RIT1):c.433A>G (p.Thr145Ala)
NM_006912.6(RIT1):c.446G>C (p.Gly149Ala)
NM_006912.6(RIT1):c.470G>A (p.Ser157Asn)
NM_006912.6(RIT1):c.488C>T (p.Thr163Ile) rs2102581107
NM_006912.6(RIT1):c.491C>G (p.Ser164Cys)
NM_006912.6(RIT1):c.4G>A (p.Asp2Asn) rs924364497
NM_006912.6(RIT1):c.503G>A (p.Arg168His)
NM_006912.6(RIT1):c.505T>A (p.Tyr169Asn)
NM_006912.6(RIT1):c.509A>G (p.Tyr170Cys)
NM_006912.6(RIT1):c.50G>A (p.Gly17Glu)
NM_006912.6(RIT1):c.532C>G (p.Leu178Val) rs730881013
NM_006912.6(RIT1):c.535G>A (p.Val179Ile)
NM_006912.6(RIT1):c.538C>T (p.Arg180Trp)
NM_006912.6(RIT1):c.546A>G (p.Ile182Met) rs1673291260
NM_006912.6(RIT1):c.547C>T (p.Arg183Cys)
NM_006912.6(RIT1):c.550A>G (p.Arg184Gly)
NM_006912.6(RIT1):c.559A>C (p.Lys187Gln)
NM_006912.6(RIT1):c.561G>C (p.Lys187Asn)
NM_006912.6(RIT1):c.565G>A (p.Ala189Thr)
NM_006912.6(RIT1):c.566C>T (p.Ala189Val)
NM_006912.6(RIT1):c.572T>A (p.Leu191Gln)
NM_006912.6(RIT1):c.578T>C (p.Met193Thr)
NM_006912.6(RIT1):c.578T>G (p.Met193Arg)
NM_006912.6(RIT1):c.587A>C (p.Lys196Thr)
NM_006912.6(RIT1):c.588A>C (p.Lys196Asn)
NM_006912.6(RIT1):c.589T>C (p.Ser197Pro) rs1673289658
NM_006912.6(RIT1):c.598A>C (p.Lys200Gln)
NM_006912.6(RIT1):c.602A>G (p.Asn201Ser)
NM_006912.6(RIT1):c.604_605del (p.Ser202fs)
NM_006912.6(RIT1):c.607G>A (p.Val203Ile)
NM_006912.6(RIT1):c.617G>A (p.Arg206Lys)
NM_006912.6(RIT1):c.617G>C (p.Arg206Thr)
NM_006912.6(RIT1):c.618G>C (p.Arg206Ser)
NM_006912.6(RIT1):c.634del (p.Arg212fs)
NM_006912.6(RIT1):c.638del (p.Lys213fs)
NM_006912.6(RIT1):c.644_647del (p.Lys215fs) rs766063111
NM_006912.6(RIT1):c.645del (p.Asp216fs) rs1673288090
NM_006912.6(RIT1):c.649del (p.Ser217fs) rs1673287696
NM_006912.6(RIT1):c.650C>G (p.Ser217Ter)
NM_006912.6(RIT1):c.7T>G (p.Ser3Ala) rs2102591265

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