List of variants in gene BEST1 reported as benign for perceptual disorders

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_004183.4(BEST1):c.867+327T>G	rs195160	0.86046
NM_004183.4(BEST1):c.636+44C>T	rs195162	0.83711
NM_004183.4(BEST1):c.109T>C (p.Leu37=)	rs1800007	0.48331
NM_004183.3(BEST1):c.-221T>C	rs972353	0.48222
NM_004183.4(BEST1):c.1739+188T>C	rs17185413	0.16159
NM_004183.3(BEST1):c.-329C>T	rs972354	0.14911
NM_004183.4(BEST1):c.219C>A (p.Ile73=)	rs1109748	0.10271
NM_004183.4(BEST1):c.696C>A (p.Ile232=)	rs1805140	0.03928
NM_004183.4(BEST1):c.201G>C (p.Leu67=)	rs1801393	0.01850
NM_004183.4(BEST1):c.618G>A (p.Leu206=)	rs62641693	0.01704
NM_004183.4(BEST1):c.482-15C>T	rs201010315	0.00088
NM_004183.4(BEST1):c.495G>A (p.Pro165=)	rs182941675	0.00022
NM_004183.4(BEST1):c.*45T>C	rs201586629	0.00015
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr)	rs147409760	0.00008
NM_004183.4(BEST1):c.991C>T (p.Arg331Trp)	rs757536535	0.00003
NM_004183.4(BEST1):c.1037C>A (p.Pro346His)
NM_004183.4(BEST1):c.868-99G>T	rs195158

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