ClinVar Miner

List of variants reported as benign for homocystinuria by Genome-Nilou Lab

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_005050.4(ABCD4):c.1753-46A>G rs929449 0.99998
NM_000071.3(CBS):c.1552+154T>C rs234701 0.95648
NM_005957.5(MTHFR):c.1305C>T (p.Phe435=) rs4846051 0.90165
NM_005957.5(MTHFR):c.1752+146T>C rs7518348 0.90139
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_181697.3(PRDX1):c.107-33A>G rs2356559 0.73044
NM_000254.3(MTR):c.3711+15G>T rs3820571 0.70934
NM_015702.3(MMADHC):c.479-22G>C rs12232959 0.66236
NM_005957.5(MTHFR):c.1166+31C>T rs1994798 0.55967
NM_000254.3(MTR):c.3576C>T (p.Leu1192=) rs1131449 0.54121
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_015506.3(MMACHC):c.321G>A (p.Val107=) rs2275276 0.43226
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.42119
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_018368.4(LMBRD1):c.1509+22G>A rs3214021 0.35441
NM_000254.3(MTR):c.3492C>A (p.Arg1164=) rs12070777 0.34762
NM_000254.3(MTR):c.3144A>G (p.Ala1048=) rs2229276 0.34551
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648 0.32715
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr) rs4148077 0.30526
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) rs3742801 0.30506
NM_005050.4(ABCD4):c.981C>A (p.Leu327=) rs4148078 0.29827
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345 0.29779
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_000254.3(MTR):c.2594+15T>C rs1770449 0.27320
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_015506.3(MMACHC):c.*279A>G rs9729395 0.22677
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_002454.3(MTRR):c.537T>C (p.Leu179=) rs161870 0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
NM_005334.3(HCFC1):c.713-13C>T rs59607260 0.19358
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_005334.3(HCFC1):c.1085-22C>G rs17421 0.19150
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878 0.16009
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.15977
NM_005957.5(MTHFR):c.1056C>T (p.Ser352=) rs2066462 0.09546
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272 0.02835
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=) rs6874544 0.01706
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01462
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550 0.01337
NM_015506.3(MMACHC):c.276+17T>A rs115028762 0.00201
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018 0.00003
NM_000254.3(MTR):c.2474-18del rs150727404
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347
NM_002454.3(MTRR):c.904-20dup rs11398509

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