List of variants in gene BEST1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)	rs199529046	0.00006
NM_004183.4(BEST1):c.397A>C (p.Asn133His)	rs755851136	0.00001
NM_004183.4(BEST1):c.1412C>T (p.Pro471Leu)	rs2134470006
NM_004183.4(BEST1):c.247+2del	rs1565387045
NM_004183.4(BEST1):c.302C>G (p.Pro101Arg)	rs374517178
NM_004183.4(BEST1):c.33T>G (p.Asn11Lys)	rs281865531
NM_004183.4(BEST1):c.37C>G (p.Arg13Gly)	rs886041141
NM_004183.4(BEST1):c.38G>C (p.Arg13Pro)	rs281865209
NM_004183.4(BEST1):c.50T>A (p.Phe17Tyr)	rs281865211
NM_004183.4(BEST1):c.888C>A (p.Asn296Lys)	rs1554963058

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