ClinVar Miner

List of variants in gene ACAN reported by OMIM

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001369268.1(ACAN):c.1425del (p.Val478fs) rs1555454630
NM_001369268.1(ACAN):c.1745del (p.Phe582fs) rs1555455057
NM_001369268.1(ACAN):c.2026+1G>A rs1555455127
NM_001369268.1(ACAN):c.223T>C (p.Trp75Arg) rs1555453695
NM_001369268.1(ACAN):c.273del (p.Arg93fs) rs1555453708
NM_001369268.1(ACAN):c.3758dup (p.Gly1254fs) rs387906534
NM_001369268.1(ACAN):c.4138G>T (p.Val1380Phe) rs1567185220
NM_001369268.1(ACAN):c.4657G>T (p.Glu1553Ter) rs1555456128
NM_001369268.1(ACAN):c.5061T>A (p.Ser1687Arg) rs1567186585
NM_001369268.1(ACAN):c.5391del (p.Gln1798fs) rs1555456230
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.7255G>A (p.Asp2419Asn) rs121913568
NM_001369268.1(ACAN):c.7317G>A (p.Trp2439Ter) rs1555457632
NM_001369268.1(ACAN):c.7363G>A (p.Val2455Met) rs267606625

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