ClinVar Miner

List of variants in gene SLC34A1 studied for primary Fanconi syndrome

Included ClinVar conditions (5):
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Gene type:
ClinVar version:
Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_003052.5(SLC34A1):c.774T>C (p.His258=) rs5030873 0.24542
NM_003052.5(SLC34A1):c.389-20C>T rs3812036 0.19698
NM_003052.5(SLC34A1):c.389-5C>T rs189794265 0.01364
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) rs148976897 0.00298
NM_003052.5(SLC34A1):c.260-4C>A rs200580283 0.00109
NM_003052.5(SLC34A1):c.1172C>T (p.Thr391Met) rs143201338 0.00066
NM_003052.5(SLC34A1):c.782G>A (p.Arg261His) rs144306414 0.00066
NM_003052.5(SLC34A1):c.626A>C (p.Asp209Ala) rs201109695 0.00051
NM_003052.5(SLC34A1):c.621G>A (p.Ala207=) rs137909349 0.00050
NM_003052.5(SLC34A1):c.1416+5G>A rs202081023 0.00036
NM_003052.5(SLC34A1):c.1700G>A (p.Gly567Glu) rs139804628 0.00025
NM_003052.5(SLC34A1):c.1826C>T (p.Pro609Leu) rs147711480 0.00022
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg) rs376131751 0.00018
NM_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser) rs34044544 0.00016
NM_003052.5(SLC34A1):c.25G>T (p.Gly9Trp) rs148669433 0.00016
NM_003052.5(SLC34A1):c.1559T>C (p.Leu520Pro) rs201728701 0.00013
NM_003052.5(SLC34A1):c.741C>A (p.Ile247=) rs374121143 0.00013
NM_003052.5(SLC34A1):c.1449G>A (p.Ser483=) rs561557630 0.00012
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu) rs140649226 0.00011
NM_003052.5(SLC34A1):c.1485C>A (p.Arg495=) rs768939354 0.00010
NM_003052.5(SLC34A1):c.510C>T (p.Ile170=) rs552176812 0.00009
NM_003052.5(SLC34A1):c.653C>T (p.Ala218Val) rs141770901 0.00009
NM_003052.5(SLC34A1):c.1690C>T (p.Arg564Trp) rs146096892 0.00008
NM_003052.5(SLC34A1):c.420C>T (p.Asn140=) rs200188041 0.00006
NM_003052.5(SLC34A1):c.604G>A (p.Val202Met) rs146919762 0.00006
NM_003052.5(SLC34A1):c.1443C>T (p.Asn481=) rs137867155 0.00005
NM_003052.5(SLC34A1):c.244G>T (p.Glu82Ter) rs377186926 0.00005
NM_003052.5(SLC34A1):c.625G>T (p.Asp209Tyr) rs199847351 0.00005
NM_003052.5(SLC34A1):c.644G>A (p.Arg215Gln) rs1163121743 0.00005
NM_003052.5(SLC34A1):c.1698C>T (p.Pro566=) rs377213972 0.00004
NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys) rs387907503 0.00004
NM_003052.5(SLC34A1):c.644+1G>A rs201304511 0.00004
NM_003052.5(SLC34A1):c.72G>T (p.Met24Ile) rs146812061 0.00004
NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter) rs200893951 0.00004
NM_003052.5(SLC34A1):c.1523C>T (p.Thr508Met) rs148272921 0.00003
NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile) rs201331677 0.00003
NM_003052.5(SLC34A1):c.294C>T (p.Gly98=) rs767269039 0.00003
NM_003052.5(SLC34A1):c.1175-13G>A rs548223568 0.00002
NM_003052.5(SLC34A1):c.1352C>T (p.Thr451Ile) rs369749329 0.00002
NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu) rs548844573 0.00002
NM_003052.5(SLC34A1):c.1039G>C (p.Asp347His) rs750711955 0.00001
NM_003052.5(SLC34A1):c.1069G>A (p.Gly357Arg) rs770557903 0.00001
NM_003052.5(SLC34A1):c.1361C>T (p.Thr454Met) rs1489305215 0.00001
NM_003052.5(SLC34A1):c.1418T>C (p.Ile473Thr) rs184668287 0.00001
NM_003052.5(SLC34A1):c.1466A>G (p.Tyr489Cys) rs756685605 0.00001
NM_003052.5(SLC34A1):c.1624G>A (p.Val542Ile) rs758639329 0.00001
NM_003052.5(SLC34A1):c.536T>C (p.Leu179Pro) rs142772770 0.00001
NM_003052.5(SLC34A1):c.645G>A (p.Arg215=) rs753903046 0.00001
NM_003052.5(SLC34A1):c.652G>A (p.Ala218Thr) rs569024586 0.00001
NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter) rs1426432774 0.00001
NM_003052.5(SLC34A1):c.94G>A (p.Val32Met) rs778803636 0.00001
GRCh37/hg19 5q35.3(chr5:176812675-176813587)
NM_003052.5(SLC34A1):c.1006+2dup
NM_003052.5(SLC34A1):c.1007-7C>G
NM_003052.5(SLC34A1):c.1008C>A (p.Cys336Ter)
NM_003052.5(SLC34A1):c.1022T>C (p.Val341Ala)
NM_003052.5(SLC34A1):c.1028C>T (p.Thr343Ile)
NM_003052.5(SLC34A1):c.1037C>T (p.Pro346Leu)
NM_003052.5(SLC34A1):c.1038G>T (p.Pro346=) rs73336286
NM_003052.5(SLC34A1):c.1079T>G (p.Val360Gly)
NM_003052.5(SLC34A1):c.1116G>T (p.Met372Ile)
NM_003052.5(SLC34A1):c.1150G>T (p.Val384Phe)
NM_003052.5(SLC34A1):c.115C>T (p.His39Tyr)
NM_003052.5(SLC34A1):c.117C>G (p.His39Gln)
NM_003052.5(SLC34A1):c.118A>T (p.Arg40Trp)
NM_003052.5(SLC34A1):c.1209C>T (p.Tyr403=) rs1581648732
NM_003052.5(SLC34A1):c.1227C>A (p.Gly409=) rs145542852
NM_003052.5(SLC34A1):c.1227C>T (p.Gly409=) rs145542852
NM_003052.5(SLC34A1):c.1228G>A (p.Ala410Thr)
NM_003052.5(SLC34A1):c.1238C>A (p.Thr413Asn)
NM_003052.5(SLC34A1):c.1238C>T (p.Thr413Ile)
NM_003052.5(SLC34A1):c.1243G>A (p.Val415Met) rs765774780
NM_003052.5(SLC34A1):c.1243G>T (p.Val415Leu)
NM_003052.5(SLC34A1):c.1271C>T (p.Ser424Leu)
NM_003052.5(SLC34A1):c.1290C>T (p.Ile430=)
NM_003052.5(SLC34A1):c.1310T>C (p.Ile437Thr)
NM_003052.5(SLC34A1):c.1316G>A (p.Arg439Lys)
NM_003052.5(SLC34A1):c.131C>A (p.Thr44Asn)
NM_003052.5(SLC34A1):c.1325C>T (p.Pro442Leu)
NM_003052.5(SLC34A1):c.1337G>A (p.Gly446Asp)
NM_003052.5(SLC34A1):c.1484G>A (p.Arg495His)
NM_003052.5(SLC34A1):c.1495C>T (p.Arg499Cys)
NM_003052.5(SLC34A1):c.1499T>C (p.Met500Thr)
NM_003052.5(SLC34A1):c.1520G>A (p.Arg507His)
NM_003052.5(SLC34A1):c.1534C>T (p.Arg512Cys)
NM_003052.5(SLC34A1):c.1576C>A (p.Leu526Met)
NM_003052.5(SLC34A1):c.1614G>A (p.Trp538Ter)
NM_003052.5(SLC34A1):c.1654C>A (p.Leu552Met)
NM_003052.5(SLC34A1):c.175G>A (p.Glu59Lys)
NM_003052.5(SLC34A1):c.1783C>T (p.Arg595Cys)
NM_003052.5(SLC34A1):c.1784G>A (p.Arg595His)
NM_003052.5(SLC34A1):c.1788_1797del (p.Thr597fs)
NM_003052.5(SLC34A1):c.1831C>T (p.Pro611Ser)
NM_003052.5(SLC34A1):c.1836del (p.Arg613fs)
NM_003052.5(SLC34A1):c.1849G>A (p.Glu617Lys)
NM_003052.5(SLC34A1):c.1885G>T (p.Ala629Ser)
NM_003052.5(SLC34A1):c.189_190del (p.Cys64fs)
NM_003052.5(SLC34A1):c.209G>A (p.Arg70His)
NM_003052.5(SLC34A1):c.23T>G (p.Leu8Arg)
NM_003052.5(SLC34A1):c.241G>C (p.Glu81Gln)
NM_003052.5(SLC34A1):c.247G>T (p.Glu83Ter)
NM_003052.5(SLC34A1):c.266G>A (p.Arg89Lys)
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003052.5(SLC34A1):c.279G>C (p.Lys93Asn)
NM_003052.5(SLC34A1):c.280C>A (p.Leu94Met)
NM_003052.5(SLC34A1):c.284G>T (p.Arg95Leu)
NM_003052.5(SLC34A1):c.293G>A (p.Gly98Asp)
NM_003052.5(SLC34A1):c.409_411del (p.Phe137del) rs758233945
NM_003052.5(SLC34A1):c.40T>G (p.Ser14Ala)
NM_003052.5(SLC34A1):c.415G>T (p.Asp139Tyr)
NM_003052.5(SLC34A1):c.446G>A (p.Gly149Glu)
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val) rs769409705
NM_003052.5(SLC34A1):c.460_480dup (p.Ile154_Val160dup) rs1554095263
NM_003052.5(SLC34A1):c.472G>A (p.Val158Met)
NM_003052.5(SLC34A1):c.511G>A (p.Val171Ile)
NM_003052.5(SLC34A1):c.521T>G (p.Val174Gly)
NM_003052.5(SLC34A1):c.533-11T>A
NM_003052.5(SLC34A1):c.537G>A (p.Leu179=)
NM_003052.5(SLC34A1):c.557_558del (p.Pro186fs)
NM_003052.5(SLC34A1):c.580G>A (p.Gly194Ser) rs370983881
NM_003052.5(SLC34A1):c.583A>G (p.Thr195Ala)
NM_003052.5(SLC34A1):c.58G>T (p.Gly20Trp)
NM_003052.5(SLC34A1):c.592A>G (p.Thr198Ala)
NM_003052.5(SLC34A1):c.601A>G (p.Ile201Val)
NM_003052.5(SLC34A1):c.614T>C (p.Met205Thr)
NM_003052.5(SLC34A1):c.640C>T (p.Arg214Trp)
NM_003052.5(SLC34A1):c.644+14G>T
NM_003052.5(SLC34A1):c.644+15G>A
NM_003052.5(SLC34A1):c.690dup (p.Val231fs)
NM_003052.5(SLC34A1):c.706C>G (p.Pro236Ala) rs1356220927
NM_003052.5(SLC34A1):c.714G>C (p.Glu238Asp)
NM_003052.5(SLC34A1):c.761C>T (p.Ser254Phe)
NM_003052.5(SLC34A1):c.775G>A (p.Gly259Ser)
NM_003052.5(SLC34A1):c.778_809delinsAGC (p.Gly260fs)
NM_003052.5(SLC34A1):c.795C>G (p.Asp265Glu)
NM_003052.5(SLC34A1):c.796C>A (p.Leu266Met)
NM_003052.5(SLC34A1):c.80C>T (p.Thr27Met)
NM_003052.5(SLC34A1):c.876_877del (p.Gly292_Asp293insTer)
NM_003052.5(SLC34A1):c.897_898del (p.His299fs)
NM_003052.5(SLC34A1):c.898A>G (p.Ser300Gly)
NM_003052.5(SLC34A1):c.902T>C (p.Leu301Pro)
NM_003052.5(SLC34A1):c.909G>C (p.Gln303His) rs768061577
NM_003052.5(SLC34A1):c.913T>C (p.Trp305Arg)
NM_003052.5(SLC34A1):c.943A>G (p.Thr315Ala)
NM_003052.5(SLC34A1):c.94G>C (p.Val32Leu)
NM_003052.5(SLC34A1):c.963G>C (p.Glu321Asp)
NM_003052.5(SLC34A1):c.982C>G (p.Leu328Val)
NM_003052.5(SLC34A1):c.998T>C (p.Met333Thr)

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