ClinVar Miner

List of variants reported as pathogenic for Diarrhea 7

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Total variants: 4
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HGVS dbSNP
NM_012079.6(DGAT1):c.5del (p.Gly2fs) rs1588689245
NM_012079.6(DGAT1):c.751+2T>C rs148665132
NM_012079.6(DGAT1):c.838C>T (p.Arg280Ter) rs1554847435
NM_012079.6(DGAT1):c.889del (p.Gln297fs) rs1200919286

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