ClinVar Miner

List of variants studied for autosomal recessive bestrophinopathy

Included ClinVar conditions (2):
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Total variants: 44
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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.1410G>A (p.Thr470=) rs149698 0.22214
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748 0.10271
NM_004183.4(BEST1):c.618G>A (p.Leu206=) rs62641693 0.01704
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) rs74653691 0.01704
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr) rs147409760 0.00008
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046 0.00006
NM_004183.4(BEST1):c.598C>T (p.Arg200Ter) rs121918286 0.00004
NM_004183.4(BEST1):c.388C>A (p.Arg130Ser) rs750102662 0.00003
NM_004183.4(BEST1):c.70T>C (p.Trp24Arg) rs1334381137 0.00002
NM_004183.4(BEST1):c.122T>C (p.Leu41Pro) rs121918288 0.00001
NM_004183.4(BEST1):c.1532A>G (p.Lys511Arg) rs1199787091 0.00001
NM_004183.4(BEST1):c.275G>T (p.Arg92Leu) rs281865225 0.00001
NM_004183.4(BEST1):c.400C>G (p.Leu134Val) rs753614067 0.00001
NM_004183.4(BEST1):c.638A>G (p.Glu213Gly) rs748685592 0.00001
NM_004183.4(BEST1):c.74G>A (p.Arg25Gln) rs281865215 0.00001
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_004183.4(BEST1):c.-37+1G>T rs1555096248
NM_004183.4(BEST1):c.1013G>A (p.Trp338Ter)
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys) rs886041142
NM_004183.4(BEST1):c.105G>C (p.Glu35Asp) rs2134409890
NM_004183.4(BEST1):c.1370C>G (p.Pro457Arg) rs1554964287
NM_004183.4(BEST1):c.1470_1471del (p.His490fs) rs281865528
NM_004183.4(BEST1):c.1514_1515del (p.Val505fs) rs752521456
NM_004183.4(BEST1):c.1622del (p.Leu541fs) rs1942209287
NM_004183.4(BEST1):c.365G>C (p.Arg122Pro) rs767103810
NM_004183.4(BEST1):c.424_426dup (p.Ser142dup) rs1591284563
NM_004183.4(BEST1):c.448C>G (p.Arg150Gly) rs1177798663
NM_004183.4(BEST1):c.533ACA[1] (p.Asn179del) rs775979290
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter) rs775283269
NM_004183.4(BEST1):c.684C>G (p.Asp228Glu) rs1431752515
NM_004183.4(BEST1):c.691A>G (p.Ser231Gly)
NM_004183.4(BEST1):c.695T>G (p.Ile232Ser) rs1565392261
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp) rs372989281
NM_004183.4(BEST1):c.868-99G>T rs195158
NM_004183.4(BEST1):c.949G>A (p.Val317Met) rs121918287
NM_004183.4(BEST1):c.949G>T (p.Val317Leu) rs121918287
NM_004183.4(BEST1):c.956T>C (p.Leu319Pro) rs1554963305
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615

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