ClinVar Miner

List of variants reported as likely pathogenic for homocystinuria by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 188
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 0.00012
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_002454.3(MTRR):c.1769+1G>A rs778738842 0.00009
NM_018368.4(LMBRD1):c.1338+2T>C rs147270670 0.00007
NM_000254.3(MTR):c.250-1G>C rs145939391 0.00004
NM_000071.3(CBS):c.415G>A (p.Gly139Arg) rs121964965 0.00003
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln) rs776483190 0.00003
NM_000071.3(CBS):c.301C>G (p.Leu101Val) rs369644531 0.00002
NM_018368.4(LMBRD1):c.1339-1G>T rs768709895 0.00002
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr) rs757920190 0.00001
NM_000254.3(MTR):c.1812+1G>A rs778242201 0.00001
NM_002454.3(MTRR):c.1554_1557+3del rs754619743 0.00001
NM_002454.3(MTRR):c.401+1G>A rs1400065323 0.00001
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys) rs200688214 0.00001
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) rs574132670 0.00001
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161 0.00001
NM_015506.3(MMACHC):c.439G>A (p.Gly147Ser) rs1553162901 0.00001
NM_015702.3(MMADHC):c.10-1G>C rs1573880177 0.00001
NM_015702.3(MMADHC):c.154+1G>A rs1385597423 0.00001
NM_015702.3(MMADHC):c.372+1G>A rs755561981 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_018368.4(LMBRD1):c.562+1G>A rs372279393 0.00001
NC_000005.10:g.(?_7883145)_(7892923_?)del
NC_000005.9:g.(?_7885880)_(7887275_?)del
NC_000005.9:g.(?_7889198)_(7897370_?)del
NC_000021.8:g.(?_44473450)_(44485825_?)del
NC_000021.8:g.(?_44476893)_(44480676_?)del
NC_000021.9:g.(?_43060421)_(43062415_?)dup
NM_000071.3(CBS):c.1006C>A (p.Arg336Ser)
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro) rs760417941
NM_000071.3(CBS):c.1007G>T (p.Arg336Leu)
NM_000071.3(CBS):c.1013T>C (p.Leu338Pro)
NM_000071.3(CBS):c.1039+5G>C rs777956934
NM_000071.3(CBS):c.1045A>G (p.Ser349Gly)
NM_000071.3(CBS):c.1047T>G (p.Ser349Arg)
NM_000071.3(CBS):c.1056C>G (p.Ser352Arg)
NM_000071.3(CBS):c.1111G>C (p.Val371Leu)
NM_000071.3(CBS):c.1135C>G (p.Arg379Gly)
NM_000071.3(CBS):c.1145+1G>A
NM_000071.3(CBS):c.1145+1G>C
NM_000071.3(CBS):c.1150A>G (p.Lys384Glu) rs121964967
NM_000071.3(CBS):c.1359-1G>C rs865990681
NM_000071.3(CBS):c.1361T>A (p.Val454Glu)
NM_000071.3(CBS):c.1367T>C (p.Leu456Pro) rs1981524462
NM_000071.3(CBS):c.139G>A (p.Asp47Asn)
NM_000071.3(CBS):c.140A>C (p.Asp47Ala) rs2146427913
NM_000071.3(CBS):c.1467+1G>A rs111687029
NM_000071.3(CBS):c.1468-1G>A rs1057516895
NM_000071.3(CBS):c.154T>A (p.Cys52Ser) rs2146427772
NM_000071.3(CBS):c.1553-1G>C rs1555869979
NM_000071.3(CBS):c.1553-2A>C rs760609383
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser) rs121964968
NM_000071.3(CBS):c.194A>T (p.His65Leu)
NM_000071.3(CBS):c.208_209+8del rs1983427704
NM_000071.3(CBS):c.209+1_209+8del rs2146427112
NM_000071.3(CBS):c.210-1G>C rs2146414477
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
NM_000071.3(CBS):c.263C>G (p.Pro88Arg)
NM_000071.3(CBS):c.284T>A (p.Ile95Asn)
NM_000071.3(CBS):c.316+1G>A rs1057516256
NM_000071.3(CBS):c.316+2_316+3del
NM_000071.3(CBS):c.317-2A>G rs2146395543
NM_000071.3(CBS):c.326G>A (p.Cys109Tyr)
NM_000071.3(CBS):c.340G>A (p.Ala114Thr) rs377708532
NM_000071.3(CBS):c.340G>T (p.Ala114Ser) rs377708532
NM_000071.3(CBS):c.359A>G (p.Asp120Gly) rs1982750491
NM_000071.3(CBS):c.361C>G (p.Arg121Gly)
NM_000071.3(CBS):c.369C>A (p.Ser123Arg) rs1555875387
NM_000071.3(CBS):c.434C>G (p.Pro145Arg)
NM_000071.3(CBS):c.443G>C (p.Gly148Ala)
NM_000071.3(CBS):c.451+1G>T rs1555875292
NM_000071.3(CBS):c.452-1G>A
NM_000071.3(CBS):c.472G>A (p.Ala158Thr)
NM_000071.3(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.3(CBS):c.526G>C (p.Glu176Gln)
NM_000071.3(CBS):c.527A>G (p.Glu176Gly)
NM_000071.3(CBS):c.528G>C (p.Glu176Asp)
NM_000071.3(CBS):c.531+1G>A
NM_000071.3(CBS):c.531+1G>T rs1207298097
NM_000071.3(CBS):c.676G>T (p.Ala226Ser)
NM_000071.3(CBS):c.677C>A (p.Ala226Asp)
NM_000071.3(CBS):c.683A>G (p.Asn228Ser) rs1555874803
NM_000071.3(CBS):c.752T>C (p.Leu251Pro) rs1176770868
NM_000071.3(CBS):c.776G>A (p.Gly259Asp)
NM_000071.3(CBS):c.784A>G (p.Thr262Ala)
NM_000071.3(CBS):c.920G>A (p.Gly307Asp)
NM_000071.3(CBS):c.920G>C (p.Gly307Ala)
NM_000071.3(CBS):c.920G>T (p.Gly307Val)
NM_000071.3(CBS):c.954+1G>A rs1057517373
NM_000071.3(CBS):c.954+2T>G rs1555874121
NM_000071.3(CBS):c.992C>T (p.Ala331Val) rs777919630
NM_000254.3(MTR):c.1135A>G (p.Asn379Asp) rs1662641467
NM_000254.3(MTR):c.1188+1G>A rs2103130072
NM_000254.3(MTR):c.1330-2A>T
NM_000254.3(MTR):c.1515+2T>C
NM_000254.3(MTR):c.1954-12A>G
NM_000254.3(MTR):c.2021G>A (p.Arg674His) rs774231870
NM_000254.3(MTR):c.2044-1G>A
NM_000254.3(MTR):c.2305-1G>T rs1664661222
NM_000254.3(MTR):c.2305-2A>G
NM_000254.3(MTR):c.2406-2A>T
NM_000254.3(MTR):c.2595-2A>G rs1558334603
NM_000254.3(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.3(MTR):c.2775+1G>T
NM_000254.3(MTR):c.2851+2T>G rs2147922731
NM_000254.3(MTR):c.3007+1G>C
NM_000254.3(MTR):c.3008-2A>G
NM_000254.3(MTR):c.3008-4A>G rs1224783275
NM_000254.3(MTR):c.34+2T>C
NM_000254.3(MTR):c.3406-2A>G
NM_000254.3(MTR):c.503-2A>G
NM_000254.3(MTR):c.866-2A>C
NM_000254.3(MTR):c.927+1G>A
NM_000254.3(MTR):c.927+1G>C rs1572218599
NM_002454.3(MTRR):c.1146+1G>C rs772608494
NM_002454.3(MTRR):c.130-1G>A
NM_002454.3(MTRR):c.1327+1G>A
NM_002454.3(MTRR):c.1371-1G>A rs1219605974
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002454.3(MTRR):c.1677-1G>A
NM_002454.3(MTRR):c.1A>G (p.Met1Val) rs1747827267
NM_002454.3(MTRR):c.283+1G>A
NM_002454.3(MTRR):c.283+1_283+20del rs1748371268
NM_002454.3(MTRR):c.401+2_401+7del rs2126676051
NM_002454.3(MTRR):c.402-1G>C
NM_002454.3(MTRR):c.402-1G>T rs1734858651
NM_002454.3(MTRR):c.402-2A>G rs2126692827
NM_002454.3(MTRR):c.781-2A>C
NM_002454.3(MTRR):c.904-1G>T
NM_002454.3(MTRR):c.904-2A>G
NM_002454.3(MTRR):c.973_1146+462del
NM_005050.4(ABCD4):c.1457-1G>C
NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys)
NM_005957.5(MTHFR):c.1032-12_1038del rs2100528352
NM_005957.5(MTHFR):c.1032-1G>C
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His) rs977038830
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser) rs200137991
NM_005957.5(MTHFR):c.1530+1G>A
NM_005957.5(MTHFR):c.1530+1G>T
NM_005957.5(MTHFR):c.1531-1G>C
NM_005957.5(MTHFR):c.1603C>T (p.Arg535Trp)
NM_005957.5(MTHFR):c.1749_1752+7del
NM_005957.5(MTHFR):c.1752+1G>T rs747846362
NM_005957.5(MTHFR):c.237-2A>C rs1644381879
NM_005957.5(MTHFR):c.337G>A (p.Ala113Thr) rs147257424
NM_005957.5(MTHFR):c.475+1G>A rs748397580
NM_005957.5(MTHFR):c.475+1G>T rs748397580
NM_005957.5(MTHFR):c.476-1G>A rs2100562061
NM_005957.5(MTHFR):c.584C>T (p.Ala195Val) rs760161369
NM_005957.5(MTHFR):c.780+1G>A
NM_015506.3(MMACHC):c.276+2T>C
NM_015506.3(MMACHC):c.276+2del
NM_015506.3(MMACHC):c.276G>A (p.Glu92=) rs556977618
NM_015506.3(MMACHC):c.277-1G>A
NM_015506.3(MMACHC):c.277-2A>G rs202000595
NM_015506.3(MMACHC):c.346C>A (p.Leu116Met) rs2149323564
NM_015506.3(MMACHC):c.346C>G (p.Leu116Val) rs2149323564
NM_015506.3(MMACHC):c.366T>A (p.His122Gln) rs1643666556
NM_015506.3(MMACHC):c.366T>G (p.His122Gln) rs1643666556
NM_015506.3(MMACHC):c.439G>C (p.Gly147Arg)
NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)
NM_015506.3(MMACHC):c.466G>A (p.Gly156Ser) rs768353633
NM_015506.3(MMACHC):c.482G>T (p.Arg161Leu)
NM_015506.3(MMACHC):c.566G>T (p.Arg189Leu)
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015702.3(MMADHC):c.10-1G>A
NM_015702.3(MMADHC):c.10-2A>G
NM_015702.3(MMADHC):c.154+1G>C rs1385597423
NM_015702.3(MMADHC):c.155-2A>G
NM_015702.3(MMADHC):c.373-1G>A rs764179800
NM_015702.3(MMADHC):c.478+1G>C
NM_015702.3(MMADHC):c.9+1G>A
NM_018368.4(LMBRD1):c.1084-1G>A
NM_018368.4(LMBRD1):c.1187_1188+2del
NM_018368.4(LMBRD1):c.1189-1G>A rs2149843526
NM_018368.4(LMBRD1):c.1338+1G>C
NM_018368.4(LMBRD1):c.307+2del
NM_018368.4(LMBRD1):c.308-1G>A
NM_018368.4(LMBRD1):c.405+2T>C
NM_018368.4(LMBRD1):c.562+1G>C
NM_018368.4(LMBRD1):c.562+1G>T
NM_018368.4(LMBRD1):c.69+1G>A
NM_018368.4(LMBRD1):c.69+2T>G
NM_018368.4(LMBRD1):c.762+1G>A
NM_018368.4(LMBRD1):c.763-2A>C
NM_018368.4(LMBRD1):c.763-2A>G
NM_018368.4(LMBRD1):c.763-6_771del

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