ClinVar Miner

List of variants reported as uncertain significance for Kilquist syndrome; Hearing loss, autosomal dominant 78; Delpire-McNeill syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001046.3(SLC12A2):c.41G>T (p.Gly14Val) rs1014756958 0.00017
NM_001046.3(SLC12A2):c.235A>C (p.Ser79Arg) rs557916029 0.00014
NM_001046.3(SLC12A2):c.788A>C (p.Glu263Ala) rs367694835 0.00011
NM_001046.3(SLC12A2):c.2210T>A (p.Leu737Gln) rs376802988 0.00001
NM_001046.3(SLC12A2):c.2293C>G (p.Leu765Val) rs548545596 0.00001
NM_001046.3(SLC12A2):c.1127A>G (p.Asn376Ser) rs116621105
NM_001046.3(SLC12A2):c.2848G>A (p.Val950Met) rs760024899
NM_001046.3(SLC12A2):c.288GGC[10] (p.Ala105_Ala107dup) rs746633185
NM_001046.3(SLC12A2):c.288GGC[11] (p.Ala104_Ala107dup) rs746633185
NM_001046.3(SLC12A2):c.3622C>G (p.Leu1208Val) rs761150347
NM_001046.3(SLC12A2):c.881G>A (p.Arg294His) rs1484832467

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