List of variants in gene BEST1 studied for Retinitis pigmentosa 50

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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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_004183.4(BEST1):c.418C>G (p.Leu140Val)	rs267606678	0.00003
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn)	rs267606676	0.00001
NM_004183.4(BEST1):c.861G>C (p.Trp287Cys)	rs1474961573	0.00001
NM_004183.4(BEST1):c.614T>C (p.Ile205Thr)	rs267606680
NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys)	rs267606677
NM_004183.4(BEST1):c.868-99G>T	rs195158

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