ClinVar Miner

List of variants reported as pathogenic for short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001369268.1(ACAN):c.1097dup (p.Gly366_Glu367insTer) rs2141581633
NM_001369268.1(ACAN):c.1429+1G>C
NM_001369268.1(ACAN):c.1534C>T (p.Gln512Ter)
NM_001369268.1(ACAN):c.1552_1556del (p.Glu518fs) rs2141585993
NM_001369268.1(ACAN):c.1605-2A>C rs2141587294
NM_001369268.1(ACAN):c.1608C>A (p.Tyr536Ter) rs2141587301
NM_001369268.1(ACAN):c.1861A>T (p.Lys621Ter) rs1896882552
NM_001369268.1(ACAN):c.1880_1883dup (p.Asp629fs) rs1896883106
NM_001369268.1(ACAN):c.2002dup (p.Arg668fs)
NM_001369268.1(ACAN):c.2023C>T (p.Arg675Ter) rs1356219990
NM_001369268.1(ACAN):c.2112dup (p.Val705fs)
NM_001369268.1(ACAN):c.2541del (p.Val848fs) rs1596144242
NM_001369268.1(ACAN):c.301C>T (p.Gln101Ter) rs2141563841
NM_001369268.1(ACAN):c.4474del (p.Ser1492fs) rs2141606910
NM_001369268.1(ACAN):c.4844del (p.Gly1615fs) rs1897080948
NM_001369268.1(ACAN):c.492C>A (p.Tyr164Ter) rs375322679
NM_001369268.1(ACAN):c.6049G>T (p.Glu2017Ter) rs2141611557
NM_001369268.1(ACAN):c.6679C>T (p.Gln2227Ter)
NM_001369268.1(ACAN):c.7178T>C (p.Leu2393Pro) rs1555457513
NM_001369268.1(ACAN):c.7204C>T (p.Gln2402Ter) rs1555457525
NM_001369268.1(ACAN):c.7363G>A (p.Val2455Met) rs267606625
Single allele

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