ClinVar Miner

List of variants reported as likely benign for achondrogenesis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP
NM_000112.3(SLC26A2):c.*1892dup rs148778566
NM_000112.3(SLC26A2):c.*1970G>T rs147208348
NM_000112.3(SLC26A2):c.*205G>A rs115383424
NM_000112.3(SLC26A2):c.*4799G>A rs72832119
NM_000112.3(SLC26A2):c.*4870dup rs368872246
NM_000112.3(SLC26A2):c.-183G>C rs540241474
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.*2476T>C
NM_000112.4(SLC26A2):c.*2873C>T
NM_000112.4(SLC26A2):c.*3507T>A
NM_000112.4(SLC26A2):c.*3918C>T
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
NM_000557.5(GDF5):c.*387T>C rs553655935
NM_000557.5(GDF5):c.*389C>T rs535023630
NM_000557.5(GDF5):c.*520T>C rs188252641
NM_000557.5(GDF5):c.-39C>T rs149907722
NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly) rs140895068
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702
NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) rs201590447
NM_001844.5(COL2A1):c.734C>T (p.Pro245Leu) rs1592232018
NM_004239.4(TRIP11):c.*1339dup rs35251290
NM_004239.4(TRIP11):c.*288C>A
NM_004239.4(TRIP11):c.*290A>G rs189206458
NM_004239.4(TRIP11):c.*387del rs148331500
NM_004239.4(TRIP11):c.1432G>A (p.Ala478Thr)
NM_004239.4(TRIP11):c.1527+7C>G rs372704269
NM_004239.4(TRIP11):c.1952T>C (p.Val651Ala) rs35991093
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448
NM_004239.4(TRIP11):c.217A>G (p.Lys73Glu) rs114300046
NM_004239.4(TRIP11):c.2382C>T (p.Asp794=) rs372227102
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) rs41301481
NM_004239.4(TRIP11):c.4069C>A (p.Gln1357Lys) rs144829001
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) rs201607866
NM_004239.4(TRIP11):c.4173C>T (p.Thr1391=) rs140070005
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) rs144780536
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=) rs72705400
NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=) rs149334552
NM_004239.4(TRIP11):c.5056+11C>T rs199549473
NM_004239.4(TRIP11):c.5125G>A (p.Ala1709Thr) rs141965887
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) rs137974620
NM_004239.4(TRIP11):c.5239A>G (p.Ile1747Val) rs137914270
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile) rs141259390
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr) rs148261539
NM_004239.4(TRIP11):c.754C>A (p.Arg252=) rs186197454
NM_004239.4(TRIP11):c.783T>C (p.Tyr261=) rs145020414

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