ClinVar Miner

List of variants in gene IMPDH1 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000883.4(IMPDH1):c.1030C>T (p.Arg344Cys) rs370988040 0.00013
NM_000883.4(IMPDH1):c.290A>G (p.Tyr97Cys) rs1798694612
NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro) rs1057518949
NM_000883.4(IMPDH1):c.942G>T (p.Lys314Asn) rs1798090540
NM_000883.4(IMPDH1):c.968A>C (p.Lys323Thr) rs1798086782

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