ClinVar Miner

List of variants reported as likely benign for Achondrogenesis, type IB

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.*4799G>A rs72832119 0.01211
NM_000112.4(SLC26A2):c.*2873C>T rs114919633 0.00970
NM_000112.4(SLC26A2):c.-183G>C rs540241474 0.00338
NM_000112.4(SLC26A2):c.*3507T>A rs180966130 0.00309
NM_000112.4(SLC26A2):c.*205G>A rs115383424 0.00280
NM_000112.4(SLC26A2):c.*443T>C rs115977282 0.00246
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.*4659G>T rs143908264 0.00169
NM_000112.4(SLC26A2):c.*1970G>T rs147208348 0.00148
NM_000112.4(SLC26A2):c.468C>T (p.Thr156=) rs111788154 0.00110
NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544 0.00022
NM_000112.4(SLC26A2):c.*3918C>T rs192457706 0.00003
NM_000112.4(SLC26A2):c.2037C>T (p.Ile679=) rs762132863 0.00002
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.858C>T (p.Leu286=) rs748677654 0.00001
NM_000112.4(SLC26A2):c.996G>A (p.Pro332=) rs376300575 0.00001
NM_000112.4(SLC26A2):c.*2476T>C rs570682108
NM_000112.4(SLC26A2):c.*4419A>C rs140200789
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.750T>C (p.Asp250=) rs1180284436

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