ClinVar Miner

List of variants in gene SLC26A2 reported as likely benign for diastrophic dysplasia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_000112.3(SLC26A2):c.*1892dup rs148778566
NM_000112.3(SLC26A2):c.*205G>A rs115383424
NM_000112.3(SLC26A2):c.*4391G>T rs150508217
NM_000112.3(SLC26A2):c.*4799G>A rs72832119
NM_000112.3(SLC26A2):c.*4870dup rs368872246
NM_000112.3(SLC26A2):c.*4930C>T rs79521091
NM_000112.3(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275
NM_000112.3(SLC26A2):c.1081G>A (p.Ala361Thr) rs139051143
NM_000112.3(SLC26A2):c.1194A>T (p.Val398=) rs886038240
NM_000112.3(SLC26A2):c.1234G>A (p.Val412Ile) rs201714602
NM_000112.3(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544
NM_000112.3(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171
NM_000112.3(SLC26A2):c.2145G>A (p.Ala715=) rs886060225
NM_000112.3(SLC26A2):c.807C>T (p.Ala269=) rs148445106
NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) rs116302615
NM_000112.4(SLC26A2):c.*2873C>T
NM_000112.4(SLC26A2):c.*3507T>A
NM_000112.4(SLC26A2):c.*4419A>C
NM_000112.4(SLC26A2):c.*443T>C
NM_000112.4(SLC26A2):c.*4659G>T
NM_000112.4(SLC26A2):c.1059T>C (p.His353=) rs114841644
NM_000112.4(SLC26A2):c.2037C>T (p.Ile679=) rs762132863
NM_000112.4(SLC26A2):c.474T>C (p.Arg158=) rs374572095
NM_000112.4(SLC26A2):c.705G>A (p.Ala235=) rs112360373

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