ClinVar Miner

List of variants in gene HJV studied for disorder of metabolite absorption and transport

Included ClinVar conditions (85):
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Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_213653.4(HJV):c.929C>G (p.Ala310Gly) rs7540883 0.02277
NM_213653.4(HJV):c.98-6C>G rs56025621 0.01841
NM_213653.4(HJV):c.828C>A (p.Ile276=) rs140919572 0.00473
NM_213653.4(HJV):c.-135T>C rs111753853 0.00277
NM_213653.4(HJV):c.510C>T (p.Phe170=) rs139281553 0.00071
NM_213653.4(HJV):c.432C>G (p.Ala144=) rs139401358 0.00064
NM_213653.4(HJV):c.9G>C (p.Glu3Asp) rs12025510 0.00064
NM_213653.4(HJV):c.*574A>T rs371123300 0.00055
NM_213653.4(HJV):c.885C>T (p.Ser295=) rs200721681 0.00054
NM_213653.4(HJV):c.904G>A (p.Glu302Lys) rs143496559 0.00053
NM_213653.4(HJV):c.*198G>A rs1043271845 0.00034
NM_213653.4(HJV):c.-202G>A rs142266220 0.00034
NM_213653.4(HJV):c.387G>A (p.Pro129=) rs375878216 0.00031
NM_213653.4(HJV):c.959G>T (p.Gly320Val) rs74315323 0.00027
NM_213653.3(HJV):c.-281T>C rs587601998 0.00024
NM_213653.4(HJV):c.435G>C (p.Pro145=) rs370184725 0.00023
NM_213653.3(HJV):c.-243C>T rs192311193 0.00021
NM_213653.4(HJV):c.-203C>T rs781908480 0.00016
NM_213653.4(HJV):c.756C>T (p.Ile252=) rs148524451 0.00013
NM_213653.3(HJV):c.-322G>A rs781937112 0.00009
NM_213653.4(HJV):c.1068T>C (p.Ala356=) rs148998327 0.00009
NM_213653.4(HJV):c.*372A>G rs747020380 0.00008
NM_213653.4(HJV):c.1004G>A (p.Arg335Gln) rs377109351 0.00008
NM_213653.4(HJV):c.645C>G (p.Thr215=) rs782116984 0.00006
NM_213653.4(HJV):c.522T>C (p.His174=) rs587646422 0.00005
NM_213653.4(HJV):c.59dup (p.Ser21fs) rs782164742 0.00005
NM_213653.4(HJV):c.409G>A (p.Gly137Ser) rs587719388 0.00004
NM_213653.4(HJV):c.665T>A (p.Ile222Asn) rs74315325 0.00003
NM_213653.4(HJV):c.1097T>A (p.Leu366Ter) rs1205047449 0.00002
NM_213653.4(HJV):c.1257T>G (p.Phe419Leu) rs782429427 0.00002
NM_213653.4(HJV):c.305C>T (p.Ala102Val) rs782681137 0.00002
NM_213653.4(HJV):c.-154C>T rs886045235 0.00001
NM_213653.4(HJV):c.201A>C (p.Gly67=) rs782445206 0.00001
NM_213653.4(HJV):c.238T>C (p.Cys80Arg) rs28940586 0.00001
NM_213653.4(HJV):c.275G>C (p.Arg92Pro) rs373894351 0.00001
NM_213653.4(HJV):c.819T>C (p.His273=) rs781912449 0.00001
NM_213653.4(HJV):c.842T>C (p.Ile281Thr) rs74315326 0.00001
NM_213653.4(HJV):c.976C>T (p.Arg326Ter) rs74315324 0.00001
NM_213653.4(HJV):c.977G>A (p.Arg326Gln) rs781805423 0.00001
NM_213653.4(HJV):c.994C>T (p.Arg332Cys) rs782408284 0.00001
NC_000001.10:g.(?_145414693)_(145417545_?)del
NC_000001.10:g.(?_145414776)_(145416941_?)dup
NM_213653.3(HJV):c.-253delC rs886045234
NM_213653.4(HJV):c.*190G>A rs1409920984
NM_213653.4(HJV):c.*197G>A rs1652426841
NM_213653.4(HJV):c.*288A>C rs886045241
NM_213653.4(HJV):c.1006G>T (p.Gly336Ter) rs1553769428
NM_213653.4(HJV):c.1084G>A (p.Val362Ile) rs1652457505
NM_213653.4(HJV):c.1113C>T (p.Pro371=) rs886045239
NM_213653.4(HJV):c.1142T>C (p.Leu381Pro)
NM_213653.4(HJV):c.116T>C (p.Ile39Thr)
NM_213653.4(HJV):c.1238C>T (p.Pro413Leu) rs2101981456
NM_213653.4(HJV):c.1254C>G (p.Leu418=) rs886045240
NM_213653.4(HJV):c.127_146del (p.Asn43fs)
NM_213653.4(HJV):c.160A>T (p.Arg54Ter) rs121434375
NM_213653.4(HJV):c.170G>A (p.Gly57Asp) rs1652593431
NM_213653.4(HJV):c.187C>T (p.Arg63Ter) rs1652592444
NM_213653.4(HJV):c.188G>A (p.Arg63Gln) rs886045237
NM_213653.4(HJV):c.189AGG[5] (p.Gly69del) rs587644102
NM_213653.4(HJV):c.189AGG[7] (p.Gly69dup) rs587644102
NM_213653.4(HJV):c.220del (p.Val74fs) rs1553769758
NM_213653.4(HJV):c.286A>T (p.Thr96Ser) rs782480409
NM_213653.4(HJV):c.293G>A (p.Arg98His)
NM_213653.4(HJV):c.302T>C (p.Leu101Pro) rs74315327
NM_213653.4(HJV):c.345C>T (p.Ile115=) rs142575526
NM_213653.4(HJV):c.397_417del (p.Pro133_Gly139del) rs781860270
NM_213653.4(HJV):c.399del (p.Ala134fs)
NM_213653.4(HJV):c.3G>C (p.Met1Ile)
NM_213653.4(HJV):c.445del (p.Asp149fs) rs1553769690
NM_213653.4(HJV):c.497A>G (p.His166Arg) rs1553769663
NM_213653.4(HJV):c.559G>T (p.Val187Phe) rs886045238
NM_213653.4(HJV):c.572G>C (p.Trp191Ser) rs2101984222
NM_213653.4(HJV):c.597C>T (p.Leu199=) rs1652543621
NM_213653.4(HJV):c.614G>C (p.Ser205Thr)
NM_213653.4(HJV):c.657+2T>A rs2101984042
NM_213653.4(HJV):c.697del (p.Gln233fs) rs1559279177
NM_213653.4(HJV):c.780A>G (p.Gly260=) rs1652494092
NM_213653.4(HJV):c.792G>C (p.Ser264=) rs35710964
NM_213653.4(HJV):c.841A>T (p.Ile281Phe) rs1559278929
NM_213653.4(HJV):c.862C>T (p.Arg288Trp)
NM_213653.4(HJV):c.950G>A (p.Cys317Tyr) rs1553769457
NM_213653.4(HJV):c.960dup (p.Cys321fs)
NM_213653.4(HJV):c.963C>A (p.Cys321Ter) rs121434374
NM_213653.4(HJV):c.982_985del (p.Ser328fs) rs786205063
NM_213653.4(HJV):c.986G>C (p.Arg329Pro) rs782614415

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