List of variants in gene ACAN reported as uncertain significance for bone development disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001369268.1(ACAN):c.836G>A (p.Arg279Gln)	rs184913582	0.00026
NM_001369268.1(ACAN):c.2539C>G (p.Pro847Ala)	rs372267862	0.00003
NM_001369268.1(ACAN):c.6113C>T (p.Thr2038Ile)	rs149083251	0.00002
NM_001369268.1(ACAN):c.1193T>A (p.Ile398Asn)	rs1555454545
NM_001369268.1(ACAN):c.1575C>G (p.Asp525Glu)	rs367724066
NM_001369268.1(ACAN):c.1817C>G (p.Ala606Gly)	rs757476544
NM_001369268.1(ACAN):c.188C>A (p.Ala63Asp)
NM_001369268.1(ACAN):c.262G>A (p.Val88Met)	rs1896574687
NM_001369268.1(ACAN):c.37del (p.Val13fs)	rs1596128744
NM_001369268.1(ACAN):c.5434G>A (p.Val1812Ile)	rs1897100294
NM_001369268.1(ACAN):c.5546G>A (p.Gly1849Asp)	rs34124958
NM_001369268.1(ACAN):c.6697C>T (p.His2233Tyr)	rs1596148604
NM_001369268.1(ACAN):c.7508G>A (p.Arg2503Gln)

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