ClinVar Miner

List of variants reported as likely pathogenic for vitamin B12 deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.6125-2A>G rs75386064 0.00226
NM_001081.4(CUBN):c.6821+2T>C rs150901286 0.00083
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430 0.00027
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169 0.00014
NM_001081.4(CUBN):c.348+2T>C rs146047781 0.00012
NM_002454.3(MTRR):c.1769+1G>A rs778738842 0.00009
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056 0.00009
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251 0.00008
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter) rs374538208 0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676 0.00005
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter) rs138695265 0.00003
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_172250.3(MMAA):c.658G>A (p.Val220Met) rs150376474 0.00003
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter) rs756614749 0.00002
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177 0.00002
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter) rs370038232 0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_030943.4(AMN):c.122C>T (p.Thr41Ile) rs119478058 0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643 0.00002
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) rs398124434 0.00002
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro) rs864309726 0.00002
NM_000254.3(MTR):c.1228G>C (p.Ala410Pro) rs121913582 0.00001
NM_000254.3(MTR):c.1753C>T (p.Arg585Ter) rs121913580 0.00001
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter) rs145818316 0.00001
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) rs386833781 0.00001
NM_001081.4(CUBN):c.4837C>T (p.Arg1613Ter) rs769881615 0.00001
NM_001081.4(CUBN):c.4856-1del rs750520309 0.00001
NM_001081.4(CUBN):c.6821+3A>G rs767078847 0.00001
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter) rs1461982823 0.00001
NM_005050.4(ABCD4):c.1752+2T>C rs151116417 0.00001
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428 0.00001
NM_015506.3(MMACHC):c.434dup (p.Ser146fs) rs768978351 0.00001
NM_030943.4(AMN):c.844-1G>C rs969552874 0.00001
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe) rs749936057 0.00001
NM_052845.4(MMAB):c.625G>A (p.Val209Met) rs200903284 0.00001
NM_172250.3(MMAA):c.365T>C (p.Leu122Pro) rs760875006 0.00001
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln) rs200577967 0.00001
NM_172250.3(MMAA):c.756del (p.Val253fs) rs1489525542 0.00001
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238 0.00001
NM_000254.3(MTR):c.1231C>T (p.Gln411Ter)
NM_000254.3(MTR):c.1513C>T (p.Gln505Ter)
NM_000254.3(MTR):c.1695+2T>A
NM_000254.3(MTR):c.1784A>C (p.His595Pro)
NM_000254.3(MTR):c.2100dup (p.Tyr701fs)
NM_000254.3(MTR):c.3053dup (p.Asn1018fs) rs1400658126
NM_000254.3(MTR):c.3712-1G>A
NM_000254.3(MTR):c.640del (p.Glu214fs)
NM_000355.4(TCN2):c.1195C>T (p.Arg399Ter)
NM_000355.4(TCN2):c.350_351insAC (p.Phe118fs)
NM_000355.4(TCN2):c.38del (p.Val13fs)
NM_001081.4(CUBN):c.10246_10258del (p.Asp3416fs)
NM_001081.4(CUBN):c.10285dup (p.Gln3429fs) rs754704005
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter) rs201426128
NM_001081.4(CUBN):c.1230+1G>A rs386833766
NM_001081.4(CUBN):c.1252del (p.Cys418fs)
NM_001081.4(CUBN):c.1415_1416delinsGAT (p.Gln472fs)
NM_001081.4(CUBN):c.1421del (p.Cys474fs)
NM_001081.4(CUBN):c.2053dup (p.His685fs)
NM_001081.4(CUBN):c.2496del (p.Pro833fs)
NM_001081.4(CUBN):c.2575dup (p.Thr859fs)
NM_001081.4(CUBN):c.2578del (p.Val860fs)
NM_001081.4(CUBN):c.2792-5_2795del
NM_001081.4(CUBN):c.3672+2T>C
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs) rs774493547
NM_001081.4(CUBN):c.4350+2T>C rs371489485
NM_001081.4(CUBN):c.4356T>G (p.Tyr1452Ter)
NM_001081.4(CUBN):c.4691_4695+3del
NM_001081.4(CUBN):c.4695+1G>T
NM_001081.4(CUBN):c.4855+1G>A
NM_001081.4(CUBN):c.4969+1G>A
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001081.4(CUBN):c.5074del (p.Leu1692fs)
NM_001081.4(CUBN):c.5169dup (p.Ala1724fs)
NM_001081.4(CUBN):c.5209+1G>A
NM_001081.4(CUBN):c.5209+2T>C
NM_001081.4(CUBN):c.5414dup (p.His1806fs)
NM_001081.4(CUBN):c.5549-1G>A
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.4(CUBN):c.5879G>A (p.Trp1960Ter)
NM_001081.4(CUBN):c.6276C>A (p.Cys2092Ter)
NM_001081.4(CUBN):c.6784C>T (p.Gln2262Ter)
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
NM_001081.4(CUBN):c.6913C>T (p.Gln2305Ter)
NM_001081.4(CUBN):c.6926_6928delinsAA (p.Gly2309fs)
NM_001081.4(CUBN):c.6949C>T (p.Arg2317Ter)
NM_001081.4(CUBN):c.7001-1del
NM_001081.4(CUBN):c.7001-2del rs756427983
NM_001081.4(CUBN):c.7071C>A (p.Tyr2357Ter)
NM_001081.4(CUBN):c.7143del (p.Phe2382fs)
NM_001081.4(CUBN):c.7145_7174del (p.Phe2382_Lys2392delinsTer)
NM_001081.4(CUBN):c.7401del (p.Tyr2468fs)
NM_001081.4(CUBN):c.7471dup (p.Thr2491fs)
NM_001081.4(CUBN):c.793_794dup (p.Asp265fs)
NM_001081.4(CUBN):c.7968_7969delinsTGTTATACCTTATATAA (p.Leu2656_Pro2657delinsPheValIleProTyrIleThr) rs2131430377
NM_001081.4(CUBN):c.7997_8003delinsAACCTTTGTTATACCTTTGTCACCAACGAACGTGTCAT (p.Trp2666_His2668delinsTer)
NM_001081.4(CUBN):c.8114_8115delinsTATGACACAAGCC (p.Tyr2705delinsLeuTer)
NM_001081.4(CUBN):c.8126_8127del (p.Ala2708_Tyr2709insTer)
NM_001081.4(CUBN):c.8354C>A (p.Ser2785Ter)
NM_001081.4(CUBN):c.8493T>A (p.Cys2831Ter)
NM_001081.4(CUBN):c.8598+1G>T
NM_001081.4(CUBN):c.8690_8691del (p.Thr2897fs)
NM_001081.4(CUBN):c.8756-2A>G
NM_001081.4(CUBN):c.8790_8791del (p.Ile2931fs)
NM_001081.4(CUBN):c.9237-1G>C
NM_001081.4(CUBN):c.9287T>C (p.Leu3096Pro)
NM_001081.4(CUBN):c.9445C>T (p.Gln3149Ter)
NM_001081.4(CUBN):c.9454+1G>A
NM_001081.4(CUBN):c.9553del (p.Cys3185fs)
NM_001081.4(CUBN):c.9556_9557del (p.Val3186fs)
NM_001081.4(CUBN):c.9612del (p.Phe3204fs)
NM_001081.4(CUBN):c.9664-2A>C
NM_002454.3(MTRR):c.1129C>T (p.Arg377Ter)
NM_002454.3(MTRR):c.1147-1G>A
NM_002454.3(MTRR):c.1164del (p.Val389fs)
NM_002454.3(MTRR):c.118G>T (p.Glu40Ter)
NM_002454.3(MTRR):c.1279CTC[2] (p.Leu429del)
NM_002454.3(MTRR):c.1459G>C (p.Gly487Arg)
NM_002454.3(MTRR):c.1725G>A (p.Trp575Ter)
NM_002454.3(MTRR):c.226del (p.Ile76fs)
NM_002454.3(MTRR):c.339del (p.Lys113fs)
NM_002454.3(MTRR):c.378_384del (p.Gly127fs)
NM_002454.3(MTRR):c.488_489del (p.Ile163fs)
NM_002454.3(MTRR):c.593del (p.Asp198fs)
NM_002454.3(MTRR):c.596C>G (p.Ser199Ter)
NM_005050.4(ABCD4):c.1118+1G>T
NM_005050.4(ABCD4):c.1237G>T (p.Glu413Ter)
NM_005050.4(ABCD4):c.1295G>A (p.Arg432Gln) rs745414252
NM_005050.4(ABCD4):c.1343_1349delinsCCCATGGG (p.Leu448fs)
NM_005050.4(ABCD4):c.244_245del (p.Leu82fs)
NM_005050.4(ABCD4):c.285+1G>T
NM_005050.4(ABCD4):c.426-1G>A
NM_005050.4(ABCD4):c.528C>A (p.Tyr176Ter)
NM_005050.4(ABCD4):c.565_566del (p.Ser189fs)
NM_005050.4(ABCD4):c.669-1G>A
NM_005050.4(ABCD4):c.669-2A>G
NM_005050.4(ABCD4):c.708del (p.Ala237fs)
NM_005050.4(ABCD4):c.767dup (p.Leu257fs)
NM_005050.4(ABCD4):c.936+1G>A
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro) rs756980496
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro) rs201777449
NM_015506.3(MMACHC):c.276G>A (p.Glu92=) rs556977618
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) rs1311416761
NM_015506.3(MMACHC):c.430-2A>G
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs) rs2149323805
NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly) rs370596113
NM_015506.3(MMACHC):c.497dup (p.Pro167fs) rs1481893137
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg) rs955468279
NM_015506.3(MMACHC):c.551_554dup (p.Arg186fs) rs1553162934
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del) rs1553162937
NM_015506.3(MMACHC):c.565del (p.Arg189fs) rs1257204721
NM_015506.3(MMACHC):c.687del (p.Gln229fs)
NM_015506.3(MMACHC):c.712C>T (p.Gln238Ter)
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_015506.3(MMACHC):c.90_97del (p.Trp30_Glu33delinsTer) rs1289618918
NM_018368.4(LMBRD1):c.1187_1188+2del
NM_018368.4(LMBRD1):c.1187_1188+3del
NM_018368.4(LMBRD1):c.1A>G (p.Met1Val)
NM_018368.4(LMBRD1):c.399del (p.Lys133fs) rs1562112648
NM_018368.4(LMBRD1):c.44G>A (p.Trp15Ter)
NM_018368.4(LMBRD1):c.553G>T (p.Gly185Ter)
NM_018368.4(LMBRD1):c.562+1del
NM_018368.4(LMBRD1):c.632dup (p.Tyr211Ter)
NM_018368.4(LMBRD1):c.760A>T (p.Lys254Ter)
NM_018368.4(LMBRD1):c.763-2A>G
NM_018368.4(LMBRD1):c.77dup (p.Leu26fs)
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs) rs771477094
NM_030943.4(AMN):c.1041_1044dup (p.Ser349fs)
NM_030943.4(AMN):c.1093_1100dup (p.Ala368fs)
NM_030943.4(AMN):c.1134_1147del (p.Pro381fs)
NM_030943.4(AMN):c.138_162+20del
NM_030943.4(AMN):c.208-13_211del
NM_030943.4(AMN):c.223_226dup (p.Glu76fs)
NM_030943.4(AMN):c.296-1G>A
NM_030943.4(AMN):c.44-1G>A
NM_030943.4(AMN):c.509del (p.Gly170fs)
NM_030943.4(AMN):c.56_57dup (p.Val20fs)
NM_030943.4(AMN):c.707del (p.Gln236fs)
NM_030943.4(AMN):c.736C>T (p.Gln246Ter)
NM_030943.4(AMN):c.760+1G>A rs1555381485
NM_052845.4(MMAB):c.245del (p.Val82fs)
NM_052845.4(MMAB):c.349-1G>C rs864309510
NM_052845.4(MMAB):c.519dup (p.Ser174fs)
NM_052845.4(MMAB):c.557G>C (p.Arg186Pro)
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup) rs864309512
NM_052845.4(MMAB):c.577G>T (p.Glu193Ter)
NM_052845.4(MMAB):c.63C>A (p.Cys21Ter)
NM_052845.4(MMAB):c.691G>T (p.Glu231Ter)
NM_172250.3(MMAA):c.1067del (p.Thr356fs)
NM_172250.3(MMAA):c.1114del (p.Gln372fs) rs765726949
NM_172250.3(MMAA):c.1130del (p.Glu377fs)
NM_172250.3(MMAA):c.202C>T (p.Gln68Ter) rs754894257
NM_172250.3(MMAA):c.439+2T>A
NM_172250.3(MMAA):c.439+2T>C
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_172250.3(MMAA):c.440G>A (p.Gly147Glu)
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter) rs1553957883
NM_172250.3(MMAA):c.772G>A (p.Asp258Asn)
NM_172250.3(MMAA):c.836_837del (p.Ile279fs)
NM_172250.3(MMAA):c.963_969+4del
NM_172250.3(MMAA):c.988del (p.Arg330fs)

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