List of variants in gene COL11A1 reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)	rs144884147	0.00098
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=)	rs147247206	0.00096
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)	rs183130583	0.00088
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=)	rs143651470	0.00070
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)	rs150669855	0.00064
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=)	rs147637674	0.00061
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr)	rs151249006	0.00039
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn)	rs143663917	0.00031
NM_001854.4(COL11A1):c.1489-5C>A	rs370997745	0.00029
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala)	rs55851925	0.00014
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=)	rs140608161	0.00010
NM_001854.4(COL11A1):c.3984A>G (p.Gln1328=)	rs767276283	0.00006
NM_001854.4(COL11A1):c.2097+3A>G	rs770210430	0.00005
NM_001854.4(COL11A1):c.2241+6T>C	rs374197371	0.00004
NM_001854.4(COL11A1):c.4377C>T (p.Gly1459=)	rs917541931	0.00004
NM_001854.4(COL11A1):c.510C>T (p.Ser170=)	rs749497678	0.00004
NM_001854.4(COL11A1):c.2098-4A>T	rs759906097	0.00003
NM_001854.4(COL11A1):c.2754+4C>T	rs201183993	0.00002
NM_001854.4(COL11A1):c.4320T>C (p.Pro1440=)	rs762511819	0.00002
NM_001854.4(COL11A1):c.1359G>A (p.Met453Ile)	rs755173952	0.00001
NM_001854.4(COL11A1):c.1414-9T>A	rs794727062	0.00001
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser)	rs56230601	0.00001
NM_001854.4(COL11A1):c.2610+9T>C	rs754222130	0.00001
NM_001854.4(COL11A1):c.2725G>A (p.Asp909Asn)	rs779028602	0.00001
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu)	rs753649097	0.00001
NM_001854.4(COL11A1):c.4859-3T>C	rs774985706	0.00001
NM_001854.4(COL11A1):c.893C>T (p.Thr298Met)	rs398123652	0.00001
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile)	rs141817156
NM_001854.4(COL11A1):c.1201T>C (p.Phe401Leu)	rs141817156
NM_001854.4(COL11A1):c.1792-39ATG[11]	rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[13]	rs71752747
NM_001854.4(COL11A1):c.2225G>C (p.Gly742Ala)	rs886044320
NM_001854.4(COL11A1):c.2976T>C (p.Pro992=)	rs368868551
NM_001854.4(COL11A1):c.3128T>C (p.Leu1043Pro)	rs886044176
NM_001854.4(COL11A1):c.3301G>T (p.Ala1101Ser)	rs1557849897
NM_001854.4(COL11A1):c.4642A>G (p.Ile1548Val)	rs1557775198

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