ClinVar Miner

List of variants studied for Maturity-onset diabetes of the young type 13 by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=) rs74162102 0.00109
NM_000525.4(KCNJ11):c.934G>A (p.Gly312Ser) rs72554079 0.00008
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=) rs202238153 0.00001

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