List of variants in gene BEST1 reported as likely benign by GeneDx

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_004183.4(BEST1):c.1100+232C>A	rs111677305	0.02090
NM_004183.4(BEST1):c.481+211dup	rs369434976	0.01983
NM_004183.4(BEST1):c.714+138T>C	rs141507235	0.01835
NM_004183.4(BEST1):c.868-253G>A	rs78012644	0.01822
NM_004183.4(BEST1):c.-37+274G>A	rs77651946	0.01674
NM_004183.4(BEST1):c.248-231C>T	rs114944671	0.01637
NM_004183.4(BEST1):c.153-75C>T	rs112665957	0.01288
NM_004183.4(BEST1):c.153-135G>C	rs77543508	0.01280
NM_004183.4(BEST1):c.-37+329T>C	rs73493205	0.01195
NM_004183.4(BEST1):c.949-101A>G	rs538729930	0.00230
NM_004183.4(BEST1):c.1739+189C>T	rs137853901	0.00116
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr)	rs147409760	0.00008
NM_004183.4(BEST1):c.1100+83T>C	rs139909214
NM_004183.4(BEST1):c.1182A>G (p.Leu394=)	rs1416177284
NM_004183.4(BEST1):c.1344G>A (p.Lys448=)	rs750853071
NM_004183.4(BEST1):c.715-173CAAA[10]	rs71046754

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