ClinVar Miner

List of variants reported as likely pathogenic for homocystinuria by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp) rs769080151 0.00003
NM_005957.5(MTHFR):c.1163G>A (p.Arg388His) rs769953411 0.00002
NM_000071.3(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_005957.5(MTHFR):c.237G>T (p.Arg79Ser) rs1553187509
NM_005957.5(MTHFR):c.379C>T (p.His127Tyr) rs769381688

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