ClinVar Miner

List of variants studied for achondrogenesis type IB by Baylor Genetics

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_000112.4(SLC26A2):c.-26+2T>C rs386833492 0.00055
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_000112.4(SLC26A2):c.700-1G>C rs200963884 0.00005
NM_000112.4(SLC26A2):c.1639C>T (p.Gln547Ter) rs775143472 0.00003
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs) rs386833497 0.00003
NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val) rs104893918 0.00003
NM_000112.4(SLC26A2):c.145del (p.Arg49fs) rs1265764649 0.00001
NM_000112.4(SLC26A2):c.1950del (p.Ile651fs) rs774648833 0.00001
NM_000112.4(SLC26A2):c.1982del (p.Thr661fs) rs762137330 0.00001
NM_000112.4(SLC26A2):c.767T>C (p.Phe256Ser) rs1419613966 0.00001
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del) rs121908077
NM_000112.4(SLC26A2):c.111del (p.Asp38fs)
NM_000112.4(SLC26A2):c.1142dup (p.Ser381fs)
NM_000112.4(SLC26A2):c.1157C>T (p.Ala386Val) rs386833493
NM_000112.4(SLC26A2):c.1217_1223del (p.Lys406fs)
NM_000112.4(SLC26A2):c.1240_1244del (p.Ala414fs)
NM_000112.4(SLC26A2):c.1246C>T (p.Gln416Ter) rs2113698485
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp) rs104893920
NM_000112.4(SLC26A2):c.1311dup (p.Ala438fs) rs1057517471
NM_000112.4(SLC26A2):c.1336A>T (p.Lys446Ter)
NM_000112.4(SLC26A2):c.1343C>A (p.Ser448Ter)
NM_000112.4(SLC26A2):c.134del (p.Asn45fs)
NM_000112.4(SLC26A2):c.1375dup (p.Val459fs)
NM_000112.4(SLC26A2):c.1394del (p.Leu465fs) rs386833495
NM_000112.4(SLC26A2):c.1397dup (p.Leu466fs) rs1755088251
NM_000112.4(SLC26A2):c.139C>T (p.Gln47Ter)
NM_000112.4(SLC26A2):c.1421del (p.Leu474fs) rs780990131
NM_000112.4(SLC26A2):c.1428T>G (p.Tyr476Ter)
NM_000112.4(SLC26A2):c.1441dup (p.Ser481fs) rs745774620
NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs) rs1057517511
NM_000112.4(SLC26A2):c.1621del (p.Cys541fs)
NM_000112.4(SLC26A2):c.1630del (p.Leu544fs)
NM_000112.4(SLC26A2):c.1649del (p.Lys550fs) rs1057517482
NM_000112.4(SLC26A2):c.1655C>A (p.Ser552Ter) rs1755094376
NM_000112.4(SLC26A2):c.165_166insCT (p.Ile56fs)
NM_000112.4(SLC26A2):c.1707C>G (p.Tyr569Ter) rs766836061
NM_000112.4(SLC26A2):c.1714del (p.Leu572fs) rs2113699101
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter) rs1554095364
NM_000112.4(SLC26A2):c.1773_1776del (p.Asn591fs) rs1755096552
NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter) rs905644652
NM_000112.4(SLC26A2):c.1796T>A (p.Leu599Ter)
NM_000112.4(SLC26A2):c.1800C>A (p.Tyr600Ter)
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs) rs1057517530
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs) rs1554095374
NM_000112.4(SLC26A2):c.1847del (p.Ala616fs)
NM_000112.4(SLC26A2):c.185C>G (p.Ser62Ter) rs1057517523
NM_000112.4(SLC26A2):c.1878del (p.Thr627fs) rs1755100270
NM_000112.4(SLC26A2):c.1926del (p.Leu644fs) rs1481910744
NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg) rs1554095397
NM_000112.4(SLC26A2):c.1994dup (p.His665fs) rs2113699563
NM_000112.4(SLC26A2):c.2017_2018del (p.Asp673fs) rs772515802
NM_000112.4(SLC26A2):c.2053C>T (p.Gln685Ter)
NM_000112.4(SLC26A2):c.2056del (p.Cys686fs)
NM_000112.4(SLC26A2):c.2065_2068delinsTC (p.Thr689fs)
NM_000112.4(SLC26A2):c.2089G>T (p.Gly697Ter)
NM_000112.4(SLC26A2):c.2125_2126del (p.Phe709fs)
NM_000112.4(SLC26A2):c.214A>T (p.Lys72Ter)
NM_000112.4(SLC26A2):c.223del (p.Gln75fs)
NM_000112.4(SLC26A2):c.235C>T (p.Gln79Ter) rs1755020578
NM_000112.4(SLC26A2):c.293G>A (p.Trp98Ter)
NM_000112.4(SLC26A2):c.294G>A (p.Trp98Ter)
NM_000112.4(SLC26A2):c.299del (p.Pro100fs) rs1581230727
NM_000112.4(SLC26A2):c.314del (p.Lys105fs)
NM_000112.4(SLC26A2):c.438dup (p.Ala147fs) rs769859976
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs) rs786204675
NM_000112.4(SLC26A2):c.473G>A (p.Arg158His) rs143658243
NM_000112.4(SLC26A2):c.47C>G (p.Ser16Ter) rs386833505
NM_000112.4(SLC26A2):c.484G>T (p.Val162Leu)
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs) rs763198695
NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter) rs386833507
NM_000112.4(SLC26A2):c.578_581del (p.Pro192_Ser193insTer) rs1554095154
NM_000112.4(SLC26A2):c.613_617del (p.Asn205fs)
NM_000112.4(SLC26A2):c.638del (p.Asp213fs)
NM_000112.4(SLC26A2):c.642_643del (p.Ser215fs) rs1554095167
NM_000112.4(SLC26A2):c.697C>T (p.Gln233Ter) rs1429562386
NM_000112.4(SLC26A2):c.705_711del (p.Met236fs) rs386833508
NM_000112.4(SLC26A2):c.736_739del (p.Val246fs) rs1057517524
NM_000112.4(SLC26A2):c.746C>G (p.Ser249Ter) rs1057517514
NM_000112.4(SLC26A2):c.807dup (p.Lys270fs)
NM_000112.4(SLC26A2):c.819del (p.Leu275fs) rs750882937
NM_000112.4(SLC26A2):c.822del (p.Leu275fs)
NM_000112.4(SLC26A2):c.854C>A (p.Ser285Ter)
NM_000112.4(SLC26A2):c.892del (p.His298fs)
NM_000112.4(SLC26A2):c.906_907del (p.Leu302_Cys303insTer) rs386833509
NM_000112.4(SLC26A2):c.909T>A (p.Cys303Ter)

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