ClinVar Miner

List of variants in gene RPGR studied for Retinitis pigmentosa 15

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Total variants: 26
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HGVS dbSNP
GRCh37/hg19 Xp11.4(chrX:38144822-38164037)
NM_000328.3(RPGR):c.1059+363G>A rs1410177435
NM_000328.3(RPGR):c.1671del (p.Ala558fs) rs1569238659
NM_000328.3(RPGR):c.179G>T (p.Gly60Val) rs62638634
NM_000328.3(RPGR):c.1905+1088_1905+1091del rs1569235677
NM_000328.3(RPGR):c.1905+331_1905+332del rs1555961852
NM_000328.3(RPGR):c.1905+479del rs1569237206
NM_000328.3(RPGR):c.1905+500_1905+501del rs398122960
NM_000328.3(RPGR):c.1905+537_1905+540del rs1569237077
NM_000328.3(RPGR):c.1905+600_1905+601del rs1569236971
NM_000328.3(RPGR):c.1905+745G>T rs137852549
NM_000328.3(RPGR):c.248-28_248-10del rs1569260656
NM_000328.3(RPGR):c.296C>A (p.Thr99Asn) rs62638637
NM_000328.3(RPGR):c.389T>G (p.Phe130Cys) rs62638644
NM_000328.3(RPGR):c.423del (p.Ile142fs) rs1569258901
NM_000328.3(RPGR):c.703C>T (p.Pro235Ser) rs62638651
NM_000328.3(RPGR):c.823G>A (p.Gly275Ser) rs62642057
NM_000328.3(RPGR):c.983del (p.Gly328fs) rs1555965107
RPGR, 1-BP INS, 173A
RPGR, 2-BP DEL, 652AG
RPGR, 2-BP DEL, 673AG
RPGR, 2-BP DEL, NT1571
RPGR, 4-BP DEL, NT1433
RPGR, 912G-T
RPGR, EX15ADEL
RPGR, IVS10DS, A-G, +3

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