ClinVar Miner

List of variants studied for Noonan syndrome 3

Included ClinVar conditions (6):
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ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00011
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe) rs1026930115 0.00009
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_004985.5(KRAS):c.111+8T>G rs779370636 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.181G>C (p.Asp61His) rs397507510
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) rs727503380
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu) rs397516810
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_004859.4(CLTC):c.1912_1916delinsAGA (p.Ala639fs) rs2032738350
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) rs104894366
NM_004985.5(KRAS):c.112-9C>T rs727504298
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) rs104894364
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_004985.5(KRAS):c.194_195insGGCAATGAGGGACCAGTACAG (p.Tyr64_Ser65insArgAlaMetArgAspGlnTyr) rs2141509973
NM_004985.5(KRAS):c.202_204del (p.Arg68del) rs1951405809
NM_004985.5(KRAS):c.229G>T (p.Gly77Cys) rs2141509652
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile) rs1951383854
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.5(KRAS):c.440A>T (p.Lys147Met)
NM_004985.5(KRAS):c.451-5642A>T rs1592798693
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.466T>A (p.Phe156Ile) rs397517042
NM_004985.5(KRAS):c.53C>T (p.Ala18Val) rs2135806030
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_004985.5(KRAS):c.76A>C (p.Asn26His) rs794727277
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_005343.4(HRAS):c.183G>T (p.Gln61His) rs121913496
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_007373.4(SHOC2):c.1159A>G (p.Lys387Glu) rs1848438761
NM_033360.4(KRAS):c.*101_*106del rs1339924833
NM_033360.4(KRAS):c.*44C>T rs1555192443
NM_033360.4(KRAS):c.*9T>G rs104894367
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) rs104894359
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn) rs730880471
NM_033360.4(KRAS):c.440A>G (p.Lys147Arg) rs1135401776

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