ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 1B by Illumina Laboratory Services, Illumina

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His) rs3208406 0.06407
NM_016042.4(EXOSC3):c.*197C>T rs117073203 0.01382
NM_016042.4(EXOSC3):c.*296T>C rs138197600 0.01009
NM_016042.4(EXOSC3):c.-12G>C rs115431773 0.00907
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=) rs62640003 0.00417
NM_016042.4(EXOSC3):c.*881A>G rs143319153 0.00332
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile) rs62640002 0.00231
NM_016042.4(EXOSC3):c.*64C>T rs142727320 0.00209
NM_016042.4(EXOSC3):c.*555A>C rs188744146 0.00133
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly) rs114878910 0.00125
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile) rs138169215 0.00077
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=) rs138085418 0.00047
NM_016042.4(EXOSC3):c.*954G>A rs530895640 0.00039
NM_016042.4(EXOSC3):c.*795A>G rs558579097 0.00038
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys) rs147135294 0.00038
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro) rs145677716 0.00038
NM_016042.4(EXOSC3):c.-11T>C rs373191549 0.00033
NM_016042.4(EXOSC3):c.*847T>A rs566642894 0.00022
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_016042.4(EXOSC3):c.*402C>T rs567641975 0.00011
NM_016042.4(EXOSC3):c.*63T>G rs753180747 0.00010
NM_016042.4(EXOSC3):c.*611A>G rs939514834 0.00008
NM_016042.4(EXOSC3):c.*194G>C rs886063933 0.00002
NM_016042.4(EXOSC3):c.324+15C>T rs775818894 0.00002
NM_016042.4(EXOSC3):c.*312T>G rs1044154281 0.00001
NM_016042.4(EXOSC3):c.325-6T>C rs375827861 0.00001
NM_016042.4(EXOSC3):c.*118G>T rs1059059
NM_016042.4(EXOSC3):c.*242A>C rs1828556271
NM_016042.4(EXOSC3):c.*354C>A rs530037792
NM_016042.4(EXOSC3):c.*354C>G rs530037792
NM_016042.4(EXOSC3):c.*419A>G rs1828546518
NM_016042.4(EXOSC3):c.*582A>C rs886063932
NM_016042.4(EXOSC3):c.*812T>G rs886063931
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser) rs549030188
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met) rs145622193
NM_016042.4(EXOSC3):c.37G>A (p.Ala13Thr) rs758230758
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=) rs1828679645
NM_016042.4(EXOSC3):c.709A>C (p.Ile237Leu) rs140199968

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