ClinVar Miner

List of variants studied for Insulin-dependent diabetes mellitus secretory diarrhea syndrome by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_014009.4(FOXP3):c.324G>A (p.Thr108=) rs111856931 0.00245
NM_014009.4(FOXP3):c.176C>G (p.Ser59Cys) rs199917616 0.00151
NM_014009.4(FOXP3):c.959C>A (p.Thr320Lys) rs781881326 0.00001
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949
NM_014009.4(FOXP3):c.1040G>A (p.Arg347His) rs1557115786
NM_014009.4(FOXP3):c.748_750del (p.Lys250del) rs1557116163

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