ClinVar Miner

List of variants in gene RPGR reported as benign for Primary ciliary dyskinesia

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Gene type:
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Total variants: 26
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HGVS dbSNP
NM_000328.3(RPGR):c.1033A>G (p.Asn345Asp) rs41305223
NM_000328.3(RPGR):c.1059+6G>A rs377731326
NM_000328.3(RPGR):c.1240G>C (p.Glu414Gln) rs150549982
NM_000328.3(RPGR):c.1296A>T (p.Glu432Asp) rs28718831
NM_000328.3(RPGR):c.1367A>G (p.Gln456Arg) rs144635565
NM_000328.3(RPGR):c.1399C>A (p.Gln467Lys) rs774321455
NM_000328.3(RPGR):c.141T>G (p.Ser47=) rs62638631
NM_000328.3(RPGR):c.153C>T (p.Thr51=) rs201242851
NM_000328.3(RPGR):c.1576_1578CAA[1] (p.Gln527del) rs62653033
NM_000328.3(RPGR):c.1598C>T (p.Thr533Met) rs41312104
NM_000328.3(RPGR):c.1710G>A (p.Thr570=) rs138347728
NM_000328.3(RPGR):c.1754-10C>G rs368767915
NM_000328.3(RPGR):c.1905+1041_1905+1046del rs767210576
NM_000328.3(RPGR):c.1905+636_1905+656del rs751710678
NM_000328.3(RPGR):c.1905+701_1905+715del rs200824587
NM_000328.3(RPGR):c.1935A>G (p.Leu645=) rs781266050
NM_000328.3(RPGR):c.2146A>G (p.Lys716Glu) rs771791722
NM_000328.3(RPGR):c.222C>T (p.Ala74=) rs143521661
NM_000328.3(RPGR):c.223A>G (p.Ile75Val) rs111631988
NM_000328.3(RPGR):c.2242-8T>C rs112368541
NM_000328.3(RPGR):c.2302C>A (p.Pro768Thr) rs34117835
NM_000328.3(RPGR):c.2323A>G (p.Ile775Val) rs147649203
NM_000328.3(RPGR):c.2365G>A (p.Asp789Asn) rs113968324
NM_000328.3(RPGR):c.552G>T (p.Gln184His) rs5963403
NM_000328.3(RPGR):c.732G>A (p.Lys244=) rs62638654
NM_000328.3(RPGR):c.865A>G (p.Ile289Val) rs62640587

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