ClinVar Miner

List of variants studied for disorder of metabolite absorption and transport by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (85):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000410.4(HFE):c.884T>C (p.Val295Ala) rs143175221 0.00056
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met) rs368545738 0.00010
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser) rs137853285 0.00005
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) rs764131178 0.00005
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00004
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990 0.00004
NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr) rs758025913 0.00003
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999 0.00003
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter) rs138695265 0.00003
NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp) rs118203979 0.00003
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) rs121917882 0.00002
NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp) rs781907456 0.00001
NM_000052.7(ATP7A):c.415A>T (p.Ile139Leu) rs1557231629 0.00001
NM_000053.4(ATP7B):c.1708-1G>C rs137853280 0.00001
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756 0.00001
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854 0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220 0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547 0.00001
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln) rs767464491 0.00001
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys) rs371085894 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_017662.5(TRPM6):c.166C>T (p.Arg56Ter) rs121912624 0.00001
NM_018713.3(SLC30A10):c.482G>T (p.Gly161Val) rs1441035788 0.00001
NM_022445.4(TPK1):c.620A>T (p.Asp207Val) rs747262651 0.00001
NM_000052.7(ATP7A):c.1056G>C (p.Glu352Asp)
NM_000052.7(ATP7A):c.1471_1473delinsATGTAA (p.Tyr491delinsMetTer)
NM_000052.7(ATP7A):c.2289T>G (p.Ile763Met)
NM_000052.7(ATP7A):c.2293C>T (p.Leu765Phe)
NM_000053.4(ATP7B):c.1172del (p.Ser391fs)
NM_000053.4(ATP7B):c.1460C>A (p.Pro487Gln)
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer) rs1057516893
NM_000053.4(ATP7B):c.174dup (p.Thr59fs) rs1057516561
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr) rs72552285
NM_000053.4(ATP7B):c.1963del (p.Leu655fs) rs2139612433
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2121+1G>A rs751235573
NM_000053.4(ATP7B):c.2212A>C (p.Ser738Arg)
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln) rs28942074
NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala)
NM_000053.4(ATP7B):c.2759T>G (p.Phe920Cys)
NM_000053.4(ATP7B):c.2837A>T (p.Asp946Val) rs2139186921
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000053.4(ATP7B):c.3412+1G>A rs1957388064
NM_000053.4(ATP7B):c.3434C>G (p.Ser1145Cys)
NM_000053.4(ATP7B):c.3445G>A (p.Gly1149Arg)
NM_000053.4(ATP7B):c.365A>G (p.Glu122Gly)
NM_000053.4(ATP7B):c.368_369insTTCGAAGC (p.Ile125fs) rs1194199486
NM_000053.4(ATP7B):c.3707T>C (p.Ile1236Thr)
NM_000053.4(ATP7B):c.3871del (p.Ala1291fs)
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.431T>C (p.Val144Ala)
NM_000053.4(ATP7B):c.448_452del (p.Glu150fs)
NM_000053.4(ATP7B):c.727_728insA (p.Phe243fs)
NM_000053.4(ATP7B):c.732del (p.Asn244fs)
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000096.4(CP):c.2285+2T>C
NM_000096.4(CP):c.3028G>A (p.Val1010Ile)
NM_000355.4(TCN2):c.679C>T (p.Arg227Ter)
NM_000701.8(ATP1A1):c.158G>A (p.Arg53His) rs369738549
NM_001063.4(TF):c.113G>A (p.Cys38Tyr)
NM_001081.4(CUBN):c.4351-1G>C
NM_001126121.2(SLC25A19):c.748G>A (p.Glu250Lys)
NM_001283.5(AP1S1):c.298G>A (p.Glu100Lys)
NM_002454.3(MTRR):c.781-2A>T
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter) rs767795583
NM_005050.4(ABCD4):c.714C>G (p.Phe238Leu)
NM_005957.5(MTHFR):c.1348-1G>C
NM_005957.5(MTHFR):c.1442C>A (p.Thr481Asn)
NM_005957.5(MTHFR):c.362G>T (p.Gly121Val)
NM_005957.5(MTHFR):c.708C>G (p.Phe236Leu)
NM_005957.5(MTHFR):c.755T>G (p.Ile252Ser)
NM_006345.4(SLC30A9):c.947G>A (p.Gly316Asp)
NM_006580.4(CLDN16):c.148T>C (p.Cys50Arg)
NM_006580.4(CLDN16):c.47C>T (p.Ser16Phe)
NM_006996.3(SLC19A2):c.314G>A (p.Gly105Glu)
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs) rs1553162788
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?) rs1553163024
NM_015702.3(MMADHC):c.702dup (p.Gly235fs) rs1682617973
NM_016729.3(FOLR1):c.148G>A (p.Glu50Lys)
NM_016729.3(FOLR1):c.713_719dup (p.Ala241fs) rs1948231142
NM_017649.5(CNNM2):c.569A>C (p.Tyr190Ser)
NM_017662.5(TRPM6):c.2189_2197del (p.Thr730_Trp733delinsArg)
NM_018368.4(LMBRD1):c.1538G>A (p.Cys513Tyr)
NM_030943.4(AMN):c.208-1G>C rs386834169
NM_052845.4(MMAB):c.88C>T (p.Pro30Ser)
NM_148960.3(CLDN19):c.473+1G>T
NM_148960.3(CLDN19):c.535G>C (p.Gly179Arg)

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