ClinVar Miner

List of variants in gene SLC26A2 reported as uncertain significance by Counsyl

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.1994A>C (p.His665Pro) rs141798540 0.00006
NM_000112.4(SLC26A2):c.797C>T (p.Thr266Ile) rs199789515 0.00004
NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val) rs104893918 0.00003
NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu) rs104893917 0.00003
NM_000112.4(SLC26A2):c.2218T>A (p.Ter740Lys) rs747357127 0.00002
NM_000112.4(SLC26A2):c.1922A>G (p.His641Arg) rs1253691463 0.00001
NM_000112.4(SLC26A2):c.767T>C (p.Phe256Ser) rs1419613966 0.00001
NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val) rs769319202 0.00001
NM_000112.4(SLC26A2):c.1023AGC[3] (p.Ala343dup) rs1554095304
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg) rs1554095397
NM_000112.4(SLC26A2):c.2097T>A (p.Tyr699Ter) rs761932822
NM_000112.4(SLC26A2):c.2121_2123del (p.Leu708del) rs1554095431
NM_000112.4(SLC26A2):c.247GCCAAA[1] (p.83AK[1]) rs1554095123
NM_000112.4(SLC26A2):c.326_331dup (p.Gly110_Asp111insValGly) rs1554095126

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