ClinVar Miner

List of variants reported as likely pathogenic by Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.3422T>C (p.Leu1141Pro) rs1057521090 0.00001
NM_000278.5(PAX2):c.226G>C (p.Gly76Arg) rs79555199
NM_000342.4(SLC4A1):c.2188C>T (p.Arg730Cys) rs770569237
NM_000372.5(TYR):c.97A>G (p.Lys33Glu)
NM_000937.5(POLR2A):c.2203C>T (p.Gln735Ter) rs1597798503
NM_001029896.2(WDR45):c.341+4A>C rs1602539322
NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr) rs761834154
NM_001367561.1(DOCK7):c.5724+1G>T
NM_001374385.1(ATP8B1):c.2800A>G (p.Arg934Gly)
NM_001395413.1(POR):c.1484G>C (p.Arg495Pro)
NM_003052.5(SLC34A1):c.1175-3C>A rs2127355139
NM_004522.3(KIF5C):c.710A>G (p.Glu237Gly)
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr) rs1555418793
NM_005677.4(COLQ):c.1162G>A (p.Asp388Asn) rs1008156537
NM_005677.4(COLQ):c.1298G>A (p.Gly433Glu) rs1575460231
NM_006009.4(TUBA1A):c.1268A>G (p.Glu423Gly)
NM_006772.3(SYNGAP1):c.844T>C (p.Cys282Arg) rs1581987022
NM_014946.4(SPAST):c.1174-1G>A rs1553317024
NM_016123.4(IRAK4):c.161+1G>A
NM_152703.5(SAMD9L):c.[1076G>A;3353A>G]
NM_153240.5(NPHP3):c.1598G>A (p.Gly533Asp)
NM_173630.4(RTTN):c.2315G>A (p.Arg772His)
NM_178012.5(TUBB2B):c.1139G>A (p.Arg380His)

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