ClinVar Miner

List of variants in gene CSF2RA reported as uncertain significance for surfactant metabolism dysfunction, pulmonary, 4

Included ClinVar conditions (1):
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Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_172245.4(CSF2RA):c.191A>G (p.Asp64Gly) rs150743648 0.00059
NM_172245.4(CSF2RA):c.676G>A (p.Val226Ile) rs181719822 0.00033
NM_172245.4(CSF2RA):c.334C>T (p.Pro112Ser) rs147866013 0.00031
NM_172245.4(CSF2RA):c.692C>T (p.Thr231Met) rs149974131 0.00028
NM_172245.4(CSF2RA):c.826G>A (p.Asp276Asn) rs143703263 0.00022
NM_172245.4(CSF2RA):c.953A>T (p.Asp318Val) rs374398870 0.00017
NM_172245.4(CSF2RA):c.251G>A (p.Arg84His) rs111646204 0.00016
NM_172245.4(CSF2RA):c.780+3C>T rs368467031 0.00016
NM_172245.4(CSF2RA):c.1034T>C (p.Leu345Pro) rs138753301 0.00014
NM_172245.4(CSF2RA):c.1061G>A (p.Arg354Gln) rs144555820 0.00014
NM_172245.4(CSF2RA):c.1186G>A (p.Val396Met) rs139686363 0.00010
NM_172245.4(CSF2RA):c.490C>T (p.Arg164Trp) rs145093302 0.00009
NM_172245.4(CSF2RA):c.789G>C (p.Gln263His) rs759171777 0.00009
NM_172245.4(CSF2RA):c.502T>A (p.Tyr168Asn) rs769648353 0.00008
NM_172245.4(CSF2RA):c.1016G>T (p.Gly339Val) rs760207183 0.00007
NM_172245.4(CSF2RA):c.428C>T (p.Thr143Met) rs190144821 0.00007
NM_172245.4(CSF2RA):c.565C>T (p.Arg189Cys) rs141694686 0.00006
NM_172245.4(CSF2RA):c.625C>G (p.Leu209Val) rs201554870 0.00006
NM_172245.4(CSF2RA):c.1111G>C (p.Glu371Gln) rs765357225 0.00005
NM_172245.4(CSF2RA):c.101C>G (p.Ser34Cys) rs139819371 0.00004
NM_172245.4(CSF2RA):c.1171G>A (p.Glu391Lys) rs779979042 0.00004
NM_172245.4(CSF2RA):c.281T>C (p.Phe94Ser) rs774500472 0.00004
NM_172245.4(CSF2RA):c.596G>A (p.Arg199Gln) rs144461826 0.00004
NM_172245.4(CSF2RA):c.689C>T (p.Thr230Met) rs371464087 0.00004
NM_172245.4(CSF2RA):c.703G>A (p.Val235Ile) rs754889776 0.00004
NM_172245.4(CSF2RA):c.706C>T (p.Arg236Trp) rs200071635 0.00004
NM_172245.4(CSF2RA):c.1168C>G (p.Arg390Gly) rs150603886 0.00003
NM_172245.4(CSF2RA):c.232G>A (p.Glu78Lys) rs753067685 0.00003
NM_172245.4(CSF2RA):c.75G>A (p.Ser25=) rs778872405 0.00003
NM_172245.4(CSF2RA):c.1148C>T (p.Pro383Leu) rs765802143 0.00002
NM_172245.4(CSF2RA):c.1156G>A (p.Gly386Arg) rs772019564 0.00002
NM_172245.4(CSF2RA):c.163A>G (p.Thr55Ala) rs759542097 0.00002
NM_172245.4(CSF2RA):c.250C>T (p.Arg84Cys) rs758063598 0.00002
NM_172245.4(CSF2RA):c.416C>T (p.Ala139Val) rs777638014 0.00002
NM_172245.4(CSF2RA):c.436C>T (p.Arg146Cys) rs202122189 0.00002
NM_172245.4(CSF2RA):c.719C>T (p.Pro240Leu) rs762456506 0.00002
NM_172245.4(CSF2RA):c.797C>T (p.Thr266Met) rs760548109 0.00002
NM_172245.4(CSF2RA):c.1021G>A (p.Val341Ile) rs776273359 0.00001
NM_172245.4(CSF2RA):c.1027G>A (p.Gly343Ser) rs1186460962 0.00001
NM_172245.4(CSF2RA):c.1044-3C>G rs2083459431 0.00001
NM_172245.4(CSF2RA):c.1045T>C (p.Phe349Leu) rs1261417012 0.00001
NM_172245.4(CSF2RA):c.1055T>G (p.Ile352Arg) rs1310278957 0.00001
NM_172245.4(CSF2RA):c.1070C>T (p.Pro357Leu) rs770606889 0.00001
NM_172245.4(CSF2RA):c.1123G>A (p.Glu375Lys) rs200259335 0.00001
NM_172245.4(CSF2RA):c.1143C>G (p.Phe381Leu) rs202127578 0.00001
NM_172245.4(CSF2RA):c.131C>T (p.Thr44Met) rs746211899 0.00001
NM_172245.4(CSF2RA):c.144C>G (p.Ser48Arg) rs762604364 0.00001
NM_172245.4(CSF2RA):c.208G>A (p.Val70Met) rs747486085 0.00001
NM_172245.4(CSF2RA):c.343+5G>A rs1442528862 0.00001
NM_172245.4(CSF2RA):c.366G>C (p.Gln122His) rs769068799 0.00001
NM_172245.4(CSF2RA):c.442G>A (p.Val148Ile) rs201377602 0.00001
NM_172245.4(CSF2RA):c.599A>T (p.Glu200Val) rs1161675124 0.00001
NM_172245.4(CSF2RA):c.601A>C (p.Ile201Leu) rs762080666 0.00001
NM_172245.4(CSF2RA):c.615C>A (p.Phe205Leu) rs750757416 0.00001
NM_172245.4(CSF2RA):c.646+3G>A rs373500219 0.00001
NM_172245.4(CSF2RA):c.680G>A (p.Arg227His) rs761247845 0.00001
NM_172245.4(CSF2RA):c.700C>A (p.Leu234Ile) rs779711299 0.00001
NM_172245.4(CSF2RA):c.780+4G>A rs1467836447 0.00001
NM_172245.4(CSF2RA):c.794G>C (p.Gly265Ala) rs775114336 0.00001
NM_172245.4(CSF2RA):c.872A>G (p.Lys291Arg) rs1250271206 0.00001
NM_172245.4(CSF2RA):c.877A>C (p.Ser293Arg) rs200955947 0.00001
NM_172245.4(CSF2RA):c.904C>T (p.Arg302Cys) rs760925182 0.00001
NM_172245.4(CSF2RA):c.938T>A (p.Ile313Asn) rs373932512 0.00001
NM_172245.4(CSF2RA):c.952G>A (p.Asp318Asn) rs771210487 0.00001
NM_172245.4(CSF2RA):c.988C>T (p.Leu330Phe) rs769866070 0.00001
NM_172245.4(CSF2RA):c.1006C>G (p.Leu336Val) rs143480669
NM_172245.4(CSF2RA):c.1006C>T (p.Leu336Phe) rs143480669
NM_172245.4(CSF2RA):c.1015G>A (p.Gly339Ser) rs2148651005
NM_172245.4(CSF2RA):c.1027G>T (p.Gly343Cys) rs1186460962
NM_172245.4(CSF2RA):c.1037T>A (p.Phe346Tyr) rs758219814
NM_172245.4(CSF2RA):c.104G>A (p.Ser35Asn) rs2148311272
NM_172245.4(CSF2RA):c.1064T>C (p.Leu355Pro) rs2083462723
NM_172245.4(CSF2RA):c.1070C>A (p.Pro357Gln)
NM_172245.4(CSF2RA):c.1123G>C (p.Glu375Gln) rs200259335
NM_172245.4(CSF2RA):c.1129A>C (p.Ile377Leu) rs2084015817
NM_172245.4(CSF2RA):c.1168C>T (p.Arg390Cys) rs150603886
NM_172245.4(CSF2RA):c.1169G>A (p.Arg390His)
NM_172245.4(CSF2RA):c.1172A>C (p.Glu391Ala)
NM_172245.4(CSF2RA):c.137A>G (p.Asn46Ser) rs2090584002
NM_172245.4(CSF2RA):c.14T>C (p.Val5Ala) rs771435926
NM_172245.4(CSF2RA):c.161A>G (p.Asn54Ser)
NM_172245.4(CSF2RA):c.17C>A (p.Thr6Lys)
NM_172245.4(CSF2RA):c.20G>A (p.Ser7Asn) rs1402617835
NM_172245.4(CSF2RA):c.21C>A (p.Ser7Arg) rs2090190168
NM_172245.4(CSF2RA):c.220-3del
NM_172245.4(CSF2RA):c.239C>T (p.Ser80Leu) rs201854740
NM_172245.4(CSF2RA):c.242G>A (p.Cys81Tyr) rs2091031726
NM_172245.4(CSF2RA):c.266A>G (p.His89Arg)
NM_172245.4(CSF2RA):c.335C>G (p.Pro112Arg) rs2148380863
NM_172245.4(CSF2RA):c.337A>T (p.Asn113Tyr) rs1603428019
NM_172245.4(CSF2RA):c.343+4A>G
NM_172245.4(CSF2RA):c.347G>A (p.Arg116Lys) rs1226419238
NM_172245.4(CSF2RA):c.352G>T (p.Gly118Cys) rs756668034
NM_172245.4(CSF2RA):c.356C>G (p.Thr119Ser)
NM_172245.4(CSF2RA):c.358G>A (p.Ala120Thr) rs148928173
NM_172245.4(CSF2RA):c.35A>G (p.Glu12Gly)
NM_172245.4(CSF2RA):c.370T>G (p.Phe124Val)
NM_172245.4(CSF2RA):c.402G>T (p.Met134Ile)
NM_172245.4(CSF2RA):c.414G>T (p.Trp138Cys)
NM_172245.4(CSF2RA):c.416C>G (p.Ala139Gly) rs777638014
NM_172245.4(CSF2RA):c.425C>A (p.Pro142Gln) rs151058706
NM_172245.4(CSF2RA):c.437G>A (p.Arg146His)
NM_172245.4(CSF2RA):c.43C>T (p.His15Tyr) rs760312267
NM_172245.4(CSF2RA):c.447G>C (p.Gln149His)
NM_172245.4(CSF2RA):c.461T>C (p.Ile154Thr) rs1230316461
NM_172245.4(CSF2RA):c.477_479del (p.Arg161del) rs1325137344
NM_172245.4(CSF2RA):c.496C>T (p.Pro166Ser) rs1603429177
NM_172245.4(CSF2RA):c.497C>T (p.Pro166Leu)
NM_172245.4(CSF2RA):c.515C>T (p.Ser172Leu)
NM_172245.4(CSF2RA):c.530G>A (p.Gly177Glu) rs142203271
NM_172245.4(CSF2RA):c.530G>C (p.Gly177Ala) rs142203271
NM_172245.4(CSF2RA):c.536A>G (p.His179Arg) rs2148416836
NM_172245.4(CSF2RA):c.560C>T (p.Thr187Met)
NM_172245.4(CSF2RA):c.566G>A (p.Arg189His) rs147180621
NM_172245.4(CSF2RA):c.580G>A (p.Val194Ile) rs2091295557
NM_172245.4(CSF2RA):c.581T>G (p.Val194Gly)
NM_172245.4(CSF2RA):c.590C>G (p.Thr197Ser)
NM_172245.4(CSF2RA):c.592A>G (p.Ser198Gly) rs2148417904
NM_172245.4(CSF2RA):c.617T>C (p.Phe206Ser) rs1437736490
NM_172245.4(CSF2RA):c.650G>A (p.Arg217Gln)
NM_172245.4(CSF2RA):c.668A>G (p.Asn223Ser) rs768648388
NM_172245.4(CSF2RA):c.677T>C (p.Val226Ala)
NM_172245.4(CSF2RA):c.679C>T (p.Arg227Cys) rs772324282
NM_172245.4(CSF2RA):c.682T>C (p.Cys228Arg) rs2091712486
NM_172245.4(CSF2RA):c.689C>G (p.Thr230Arg)
NM_172245.4(CSF2RA):c.69G>T (p.Glu23Asp) rs1603424196
NM_172245.4(CSF2RA):c.703G>T (p.Val235Leu) rs754889776
NM_172245.4(CSF2RA):c.707G>A (p.Arg236Gln) rs1418501378
NM_172245.4(CSF2RA):c.74C>T (p.Ser25Leu)
NM_172245.4(CSF2RA):c.766G>A (p.Asp256Asn) rs761350119
NM_172245.4(CSF2RA):c.77-3C>A
NM_172245.4(CSF2RA):c.782A>G (p.Asn261Ser)
NM_172245.4(CSF2RA):c.802A>G (p.Asn268Asp)
NM_172245.4(CSF2RA):c.834A>T (p.Glu278Asp)
NM_172245.4(CSF2RA):c.836A>C (p.Asn279Thr) rs2092297530
NM_172245.4(CSF2RA):c.83G>A (p.Arg28Gln) rs764272709
NM_172245.4(CSF2RA):c.83G>C (p.Arg28Pro) rs764272709
NM_172245.4(CSF2RA):c.868G>A (p.Ala290Thr)
NM_172245.4(CSF2RA):c.893C>T (p.Ala298Val)
NM_172245.4(CSF2RA):c.901G>T (p.Val301Phe) rs767644484
NM_172245.4(CSF2RA):c.912G>C (p.Leu304Phe) rs764261104
NM_172245.4(CSF2RA):c.933A>C (p.Glu311Asp)
NM_172245.4(CSF2RA):c.934G>A (p.Ala312Thr)
NM_172245.4(CSF2RA):c.97G>C (p.Ala33Pro)

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