ClinVar Miner

List of variants studied for Classic homocystinuria by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000071.3(CBS):c.770C>T (p.Thr257Met) rs758236584 0.00010
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp) rs769080151 0.00003
NM_000071.3(CBS):c.434C>T (p.Pro145Leu) rs121964963

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