List of variants in gene BCOR 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=)	rs147497014	0.00082
NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr)	rs142595337	0.00043
NM_001123385.2(BCOR):c.2525T>C (p.Val842Ala)	rs143119333	0.00032
NM_001123385.2(BCOR):c.3446C>T (p.Ala1149Val)	rs368780561	0.00011
NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=)	rs753786462	0.00011
NM_001123385.2(BCOR):c.2910G>A (p.Ala970=)	rs138137552	0.00005
NM_001123385.2(BCOR):c.3711G>A (p.Val1237=)	rs753256966	0.00005
NM_001123385.2(BCOR):c.4258G>A (p.Asp1420Asn)	rs886042813	0.00005
NM_001123385.2(BCOR):c.2008C>T (p.Pro670Ser)	rs148886271	0.00004
NM_001123385.2(BCOR):c.3052-14C>T	rs373005644	0.00004
NM_001123385.2(BCOR):c.347C>T (p.Ser116Leu)	rs775994643	0.00004
NM_001123385.2(BCOR):c.4173+5C>T	rs398124314	0.00003
NM_001123385.2(BCOR):c.86+9G>A	rs794727292	0.00002
NM_001123385.2(BCOR):c.3956C>T (p.Ala1319Val)	rs758900726	0.00001
NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser)	rs398124312
NM_001123385.2(BCOR):c.3847+7G>A	rs142686469
NM_001123385.2(BCOR):c.4443C>T (p.Tyr1481=)	rs1555913852

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