ClinVar Miner

List of variants reported as benign for Diastrophic dysplasia

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr) rs30832 0.99306
NM_000112.4(SLC26A2):c.*3404C>T rs30833 0.98883
NM_000112.4(SLC26A2):c.*1024T>G rs8073 0.21816
NM_000112.4(SLC26A2):c.*5553G>A rs10476926 0.20874
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070 0.19906
NM_000112.4(SLC26A2):c.*5338T>C rs17711997 0.14477
NM_000112.4(SLC26A2):c.*4982A>G rs74589369 0.04589
NM_000112.4(SLC26A2):c.*3670G>A rs76262875 0.04581
NM_000112.4(SLC26A2):c.*2226C>T rs7722454 0.04260
NM_000112.4(SLC26A2):c.*4460G>T rs111742763 0.03131
NM_000112.4(SLC26A2):c.*590C>T rs1046710 0.03077
NM_000112.4(SLC26A2):c.*1631C>T rs7717795 0.03068
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_000112.4(SLC26A2):c.*2617C>T rs188922059 0.01558
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=) rs61732052 0.01353
NM_000112.4(SLC26A2):c.*3466C>G rs6888879 0.01309
NM_000112.4(SLC26A2):c.*2612C>T rs28451300 0.01303
NM_000112.4(SLC26A2):c.*394T>A rs140641532 0.00987
NM_000112.4(SLC26A2):c.*938T>C rs150188068 0.00983
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val) rs35919114 0.00795
NM_000112.4(SLC26A2):c.*1552G>C rs143723917 0.00675
NM_000112.4(SLC26A2):c.*2780G>A rs9324635 0.00587
NM_000112.4(SLC26A2):c.*600G>T rs143723255 0.00148
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=) rs115777661 0.00017
NM_000112.4(SLC26A2):c.*4469del rs397883627

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