ClinVar Miner

List of variants in gene combination LOC130004614, SUFU reported as uncertain significance by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_016169.4(SUFU):c.50C>T (p.Ala17Val) rs12780580 0.00023
NM_016169.4(SUFU):c.6G>T (p.Ala2=) rs746555296 0.00021
NM_016169.3(SUFU):c.-189C>T rs1589969363
NM_016169.3(SUFU):c.-202C>T rs1222242003
NM_016169.4(SUFU):c.-103C>A rs886046653
NM_016169.4(SUFU):c.-163A>G rs886046652
NM_016169.4(SUFU):c.-181A>G rs867202826
NM_016169.4(SUFU):c.-81C>A rs546107381
NM_016169.4(SUFU):c.-81C>T rs546107381

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