ClinVar Miner

List of variants in gene CD320 reported as uncertain significance for disorder of metabolite absorption and transport

Included ClinVar conditions (85):
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Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_016579.4(CD320):c.478G>A (p.Asp160Asn) rs188158114 0.00024
NM_016579.4(CD320):c.35G>T (p.Trp12Leu) rs763898394 0.00016
NM_016579.4(CD320):c.41C>T (p.Thr14Ile) rs374551944 0.00016
NM_016579.4(CD320):c.773G>A (p.Arg258His) rs143156732 0.00013
NM_016579.4(CD320):c.277C>T (p.Pro93Ser) rs377236965 0.00007
NM_016579.4(CD320):c.761G>A (p.Arg254Gln) rs369347295 0.00006
NM_016579.4(CD320):c.497G>T (p.Gly166Val) rs769438880 0.00004
NM_016579.4(CD320):c.760C>T (p.Arg254Ter) rs750760449 0.00004
NM_016579.4(CD320):c.88G>C (p.Gly30Arg) rs1314256093 0.00004
NM_016579.4(CD320):c.731C>T (p.Thr244Ile) rs557939985 0.00003
NM_016579.4(CD320):c.202G>A (p.Val68Met) rs748020753 0.00001
NM_016579.4(CD320):c.212C>G (p.Thr71Ser) rs560650557 0.00001
NM_016579.4(CD320):c.32C>A (p.Ala11Glu) rs567898376 0.00001
NM_016579.4(CD320):c.334G>A (p.Gly112Ser) rs948576208 0.00001
NM_016579.4(CD320):c.404G>T (p.Gly135Val) rs751841592 0.00001
NM_016579.4(CD320):c.7G>A (p.Gly3Ser) rs778033415 0.00001
NC_000019.10:g.(?_8302443)_(8308310_?)dup
NC_000019.9:g.(?_8367347)_(8370060_?)dup
NM_016579.4(CD320):c.11G>C (p.Gly4Ala) rs2232774
NM_016579.4(CD320):c.139G>C (p.Ala47Pro)
NM_016579.4(CD320):c.142+4A>G
NM_016579.4(CD320):c.166C>T (p.Pro56Ser)
NM_016579.4(CD320):c.167C>T (p.Pro56Leu) rs1329946054
NM_016579.4(CD320):c.168_171del (p.Thr57fs)
NM_016579.4(CD320):c.178C>T (p.Gln60Ter) rs1281977713
NM_016579.4(CD320):c.179A>T (p.Gln60Leu)
NM_016579.4(CD320):c.195_223del (p.Leu66fs)
NM_016579.4(CD320):c.229G>A (p.Asp77Asn)
NM_016579.4(CD320):c.242G>A (p.Ser81Asn)
NM_016579.4(CD320):c.245A>T (p.Asp82Val)
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_016579.4(CD320):c.268+4A>C
NM_016579.4(CD320):c.302C>G (p.Pro101Arg)
NM_016579.4(CD320):c.305C>T (p.Pro102Leu) rs767897892
NM_016579.4(CD320):c.314G>T (p.Gly105Val)
NM_016579.4(CD320):c.32C>T (p.Ala11Val) rs567898376
NM_016579.4(CD320):c.337G>A (p.Val113Ile)
NM_016579.4(CD320):c.350C>T (p.Ser117Phe)
NM_016579.4(CD320):c.356G>T (p.Gly119Val)
NM_016579.4(CD320):c.386G>T (p.Arg129Leu) rs139064611
NM_016579.4(CD320):c.412C>A (p.Arg138Ser) rs201166605
NM_016579.4(CD320):c.427G>A (p.Asp143Asn)
NM_016579.4(CD320):c.451C>T (p.Arg151Cys) rs769150463
NM_016579.4(CD320):c.487G>A (p.Asp163Asn)
NM_016579.4(CD320):c.502+3A>G
NM_016579.4(CD320):c.502G>A (p.Gly168Arg)
NM_016579.4(CD320):c.506C>T (p.Thr169Ile)
NM_016579.4(CD320):c.509A>G (p.Asn170Ser)
NM_016579.4(CD320):c.521C>T (p.Pro174Leu)
NM_016579.4(CD320):c.551C>T (p.Pro184Leu)
NM_016579.4(CD320):c.571_624del (p.Thr191_Val208del)
NM_016579.4(CD320):c.571_624dup (p.Val208_Pro209insThrSerLeuArgAsnAlaThrThrMetGlyProProValThrLeuGluSerVal)
NM_016579.4(CD320):c.599G>T (p.Gly200Val)
NM_016579.4(CD320):c.60GCT[7] (p.Leu24_Leu25dup) rs750768529
NM_016579.4(CD320):c.622_624del (p.Val208del)
NM_016579.4(CD320):c.634G>A (p.Gly212Arg)
NM_016579.4(CD320):c.634G>T (p.Gly212Trp) rs550390075
NM_016579.4(CD320):c.679A>G (p.Thr227Ala) rs766740010
NM_016579.4(CD320):c.685T>C (p.Tyr229His)
NM_016579.4(CD320):c.708G>A (p.Ala236=) rs768870573
NM_016579.4(CD320):c.760C>A (p.Arg254=) rs750760449
NM_016579.4(CD320):c.76G>A (p.Gly26Ser)
NM_016579.4(CD320):c.800C>T (p.Ala267Val)
NM_016579.4(CD320):c.839C>T (p.Ser280Leu)
NM_016579.4(CD320):c.96G>C (p.Glu32Asp)

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