ClinVar Miner

List of variants in gene SLC52A3 studied for Inborn genetic diseases

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Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_033409.4(SLC52A3):c.9C>T (p.Phe3=) rs139486822 0.00809
NM_033409.4(SLC52A3):c.1047G>A (p.Ser349=) rs147369439 0.00220
NM_033409.4(SLC52A3):c.981G>C (p.Leu327=) rs62641669 0.00081
NM_033409.4(SLC52A3):c.936G>A (p.Ala312=) rs6054602 0.00077
NM_033409.4(SLC52A3):c.339C>T (p.Phe113=) rs151229044 0.00072
NM_033409.4(SLC52A3):c.546G>A (p.Thr182=) rs139965967 0.00068
NM_033409.4(SLC52A3):c.865G>A (p.Glu289Lys) rs142265627 0.00052
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu) rs145431028 0.00046
NM_033409.4(SLC52A3):c.1381G>T (p.Asp461Tyr) rs140360713 0.00028
NM_033409.4(SLC52A3):c.801G>A (p.Pro267=) rs146474751 0.00026
NM_033409.4(SLC52A3):c.646G>A (p.Ala216Thr) rs202130911 0.00024
NM_033409.4(SLC52A3):c.787C>T (p.His263Tyr) rs150159842 0.00024
NM_033409.4(SLC52A3):c.945C>T (p.Asn315=) rs139430185 0.00023
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln) rs142157418 0.00022
NM_033409.4(SLC52A3):c.1278C>T (p.Arg426=) rs139137879 0.00017
NM_033409.4(SLC52A3):c.203G>C (p.Cys68Ser) rs149622425 0.00015
NM_033409.4(SLC52A3):c.1172G>A (p.Gly391Asp) rs370820845 0.00013
NM_033409.4(SLC52A3):c.438A>G (p.Gly146=) rs149076913 0.00013
NM_033409.4(SLC52A3):c.135G>A (p.Thr45=) rs373887707 0.00012
NM_033409.4(SLC52A3):c.97G>C (p.Glu33Gln) rs199861879 0.00011
NM_033409.4(SLC52A3):c.58A>C (p.Ile20Leu) rs148387972 0.00010
NM_033409.4(SLC52A3):c.403A>G (p.Thr135Ala) rs527853872 0.00009
NM_033409.4(SLC52A3):c.363C>G (p.Thr121=) rs749966154 0.00008
NM_033409.4(SLC52A3):c.194G>A (p.Arg65Gln) rs144337813 0.00007
NM_033409.4(SLC52A3):c.1270C>T (p.Leu424Phe) rs369230517 0.00006
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_033409.4(SLC52A3):c.890C>T (p.Pro297Leu) rs201990981 0.00006
NM_033409.4(SLC52A3):c.499G>A (p.Val167Ile) rs112034541 0.00005
NM_033409.4(SLC52A3):c.728G>A (p.Arg243His) rs748986274 0.00005
NM_033409.4(SLC52A3):c.134C>T (p.Thr45Met) rs776065357 0.00004
NM_033409.4(SLC52A3):c.25G>A (p.Val9Ile) rs770505431 0.00004
NM_033409.4(SLC52A3):c.374C>A (p.Thr125Asn) rs767263985 0.00004
NM_033409.4(SLC52A3):c.628G>A (p.Glu210Lys) rs747663714 0.00004
NM_033409.4(SLC52A3):c.928G>A (p.Val310Ile) rs145194879 0.00004
NM_033409.4(SLC52A3):c.933C>T (p.Asn311=) rs534678154 0.00004
NM_033409.4(SLC52A3):c.946G>A (p.Gly316Ser) rs372400886 0.00004
NM_033409.4(SLC52A3):c.987T>C (p.Tyr329=) rs376546378 0.00004
NM_033409.4(SLC52A3):c.994G>A (p.Val332Ile) rs890765839 0.00004
NM_033409.4(SLC52A3):c.1177T>C (p.Trp393Arg) rs762145813 0.00003
NM_033409.4(SLC52A3):c.517T>C (p.Ser173Pro) rs749602815 0.00003
NM_033409.4(SLC52A3):c.706G>A (p.Val236Met) rs927297761 0.00003
NM_033409.4(SLC52A3):c.796C>T (p.Arg266Trp) rs370499474 0.00003
NM_033409.4(SLC52A3):c.1095C>T (p.Val365=) rs776667122 0.00002
NM_033409.4(SLC52A3):c.1192C>T (p.Leu398Phe) rs774461829 0.00002
NM_033409.4(SLC52A3):c.193C>T (p.Arg65Trp) rs537244674 0.00002
NM_033409.4(SLC52A3):c.478G>A (p.Gly160Ser) rs199778195 0.00002
NM_033409.4(SLC52A3):c.894G>A (p.Ala298=) rs532778217 0.00002
NM_033409.4(SLC52A3):c.959C>G (p.Ser320Cys) rs535368648 0.00002
NM_033409.4(SLC52A3):c.1096C>A (p.Leu366Ile) rs772652109 0.00001
NM_033409.4(SLC52A3):c.1313T>C (p.Leu438Pro) rs1167512470 0.00001
NM_033409.4(SLC52A3):c.1373C>A (p.Ser458Ter) rs745750480 0.00001
NM_033409.4(SLC52A3):c.210C>T (p.Ser70=) rs1455468261 0.00001
NM_033409.4(SLC52A3):c.241G>A (p.Val81Met) rs546240059 0.00001
NM_033409.4(SLC52A3):c.305G>A (p.Gly102Asp) rs888740621 0.00001
NM_033409.4(SLC52A3):c.319G>A (p.Ala107Thr) rs370718326 0.00001
NM_033409.4(SLC52A3):c.484G>A (p.Gly162Ser) rs896950205 0.00001
NM_033409.4(SLC52A3):c.550G>T (p.Glu184Ter) rs890871342 0.00001
NM_033409.4(SLC52A3):c.618G>A (p.Leu206=) rs1418663109 0.00001
NM_033409.4(SLC52A3):c.834G>A (p.Thr278=) rs756359704 0.00001
NM_033409.4(SLC52A3):c.951G>A (p.Met317Ile) rs1027231153 0.00001
NM_033409.4(SLC52A3):c.1027G>A (p.Val343Met) rs758815341
NM_033409.4(SLC52A3):c.1028T>C (p.Val343Ala)
NM_033409.4(SLC52A3):c.1051G>T (p.Val351Phe)
NM_033409.4(SLC52A3):c.1156T>C (p.Cys386Arg) rs1555783543
NM_033409.4(SLC52A3):c.1162C>G (p.Leu388Val)
NM_033409.4(SLC52A3):c.1201G>T (p.Ala401Ser) rs544612142
NM_033409.4(SLC52A3):c.1203dup (p.Ser402fs)
NM_033409.4(SLC52A3):c.1205C>G (p.Ser402Trp)
NM_033409.4(SLC52A3):c.1210G>A (p.Val404Met)
NM_033409.4(SLC52A3):c.1253G>A (p.Gly418Asp)
NM_033409.4(SLC52A3):c.1273A>C (p.Ser425Arg)
NM_033409.4(SLC52A3):c.1374G>T (p.Ser458=) rs758484328
NM_033409.4(SLC52A3):c.178C>G (p.Leu60Val)
NM_033409.4(SLC52A3):c.241G>T (p.Val81Leu)
NM_033409.4(SLC52A3):c.281A>G (p.Asn94Ser)
NM_033409.4(SLC52A3):c.320C>T (p.Ala107Val)
NM_033409.4(SLC52A3):c.502A>C (p.Asn168His)
NM_033409.4(SLC52A3):c.525C>G (p.Ser175Arg) rs143641819
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter) rs778363575
NM_033409.4(SLC52A3):c.753del (p.Val252fs) rs1568721373
NM_033409.4(SLC52A3):c.763C>T (p.Leu255Phe) rs1986576660
NM_033409.4(SLC52A3):c.775C>T (p.Gln259Ter)
NM_033409.4(SLC52A3):c.788A>G (p.His263Arg)
NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp) rs145498634
NM_033409.4(SLC52A3):c.833C>G (p.Thr278Arg) rs3746803
NM_033409.4(SLC52A3):c.851G>A (p.Gly284Asp)
NM_033409.4(SLC52A3):c.860A>T (p.Tyr287Phe)
NM_033409.4(SLC52A3):c.867G>C (p.Glu289Asp)
NM_033409.4(SLC52A3):c.88C>A (p.Leu30Met)
NM_033409.4(SLC52A3):c.895C>T (p.His299Tyr) rs1986566985

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