ClinVar Miner

List of variants reported as likely pathogenic for sulfur metabolism disease by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys) rs121434296 0.00004
NM_017570.5(OPLAH):c.2303G>A (p.Arg768His) rs539275646 0.00004
NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln) rs776356158 0.00002
NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln) rs1281276965 0.00001
NM_018368.4(LMBRD1):c.562+1G>A rs372279393 0.00001
NM_000071.3(CBS):c.1357G>A (p.Gly453Arg)
NM_000071.3(CBS):c.969G>A (p.Trp323Ter) rs863223432
NM_000254.3(MTR):c.2406-1G>A
NM_000637.5(GSR):c.342del (p.Met113_Trp114insTer)
NM_000637.5(GSR):c.640G>A (p.Gly214Ser)
NM_001032386.2(SUOX):c.520del (p.Asp174fs) rs1565798380
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly) rs1050035768
NM_001370658.1(BTD):c.430_431del (p.Arg144fs) rs397514365
NM_005957.5(MTHFR):c.1596C>G (p.Tyr532Ter)
NM_015506.3(MMACHC):c.616del (p.Arg206fs) rs1163462384

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