ClinVar Miner

List of variants studied for Familial hypokalemia-hypomagnesemia by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln) rs768527231 0.00004
NM_001126108.2(SLC12A3):c.1670-191C>T rs374182921 0.00003
NM_001126108.2(SLC12A3):c.2800_2803del (p.Arg934fs) rs758020565
NM_001126108.2(SLC12A3):c.322C>T (p.Arg108Trp) rs541789117

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