ClinVar Miner

List of variants studied for Achondrogenesis, type IB by Natera, Inc.

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Total variants: 48
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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.2065A>T (p.Thr689Ser) rs3776070 0.19906
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=) rs61732052 0.01353
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val) rs35919114 0.00795
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171 0.00214
NM_000112.4(SLC26A2):c.468C>T (p.Thr156=) rs111788154 0.00110
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000112.4(SLC26A2):c.782C>G (p.Ser261Cys) rs114260147 0.00075
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275 0.00073
NM_000112.4(SLC26A2):c.-26+2T>C rs386833492 0.00055
NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr) rs139051143 0.00026
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544 0.00022
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=) rs115777661 0.00017
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000112.4(SLC26A2):c.474T>C (p.Arg158=) rs374572095 0.00014
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_000112.4(SLC26A2):c.1744C>T (p.Arg582Cys) rs142542254 0.00011
NM_000112.4(SLC26A2):c.704C>T (p.Ala235Val) rs777906405 0.00009
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs) rs386833497 0.00003
NM_000112.4(SLC26A2):c.172C>T (p.Arg58Cys) rs369318758 0.00003
NM_000112.4(SLC26A2):c.2164T>C (p.Ser722Pro) rs565149029 0.00003
NM_000112.4(SLC26A2):c.645T>C (p.Ser215=) rs1396953137 0.00003
NM_000112.4(SLC26A2):c.2037C>T (p.Ile679=) rs762132863 0.00002
NM_000112.4(SLC26A2):c.712T>G (p.Phe238Val) rs746734591 0.00002
NM_000112.4(SLC26A2):c.740A>G (p.Tyr247Cys) rs768745973 0.00002
NM_000112.4(SLC26A2):c.1057C>T (p.His353Tyr) rs758078719 0.00001
NM_000112.4(SLC26A2):c.1427A>G (p.Tyr476Cys) rs145765282 0.00001
NM_000112.4(SLC26A2):c.145del (p.Arg49fs) rs1265764649 0.00001
NM_000112.4(SLC26A2):c.1647A>G (p.Pro549=) rs200694484 0.00001
NM_000112.4(SLC26A2):c.21G>A (p.Glu7=) rs768964077 0.00001
NM_000112.4(SLC26A2):c.502C>T (p.Leu168=) rs745566850 0.00001
NM_000112.4(SLC26A2):c.533G>A (p.Arg178Gln) rs747117439 0.00001
NM_000112.4(SLC26A2):c.709G>A (p.Gly237Ser) rs758186195 0.00001
NM_000112.4(SLC26A2):c.858C>T (p.Leu286=) rs748677654 0.00001
NM_000112.4(SLC26A2):c.996G>A (p.Pro332=) rs376300575 0.00001
NM_000112.4(SLC26A2):c.105A>T (p.Ser35=) rs765269781
NM_000112.4(SLC26A2):c.132C>G (p.Thr44=) rs1202182617
NM_000112.4(SLC26A2):c.1634G>A (p.Arg545His) rs745802790
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg) rs1554095397
NM_000112.4(SLC26A2):c.2017_2018del (p.Asp673fs) rs772515802
NM_000112.4(SLC26A2):c.225GAA[1] (p.Lys76del) rs1204857377
NM_000112.4(SLC26A2):c.750T>C (p.Asp250=) rs1180284436
NM_000112.4(SLC26A2):c.892C>A (p.His298Asn) rs1025069199
NM_000112.4(SLC26A2):c.902A>G (p.Asn301Ser) rs750646790

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