ClinVar Miner

List of variants in gene UBR1 studied for auditory system disease

Included ClinVar conditions (549):
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Gene type:
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Total variants: 11
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HGVS dbSNP
NM_174916.3(UBR1):c.1213A>G (p.Ser405Gly) rs77360687
NM_174916.3(UBR1):c.1440-1G>A rs1596118528
NM_174916.3(UBR1):c.1537C>T (p.Gln513Ter) rs119477055
NM_174916.3(UBR1):c.1539+2T>G
NM_174916.3(UBR1):c.2261G>A (p.Arg754His)
NM_174916.3(UBR1):c.2839+5G>A rs1596106023
NM_174916.3(UBR1):c.407A>G (p.His136Arg) rs119477054
NM_174916.3(UBR1):c.4107T>A (p.Cys1369Ter) rs797045112
NM_174916.3(UBR1):c.5019C>G (p.Cys1673Trp)
NM_174916.3(UBR1):c.947G>A (p.Arg316His)
UBR1, IVS20DS, T-C, +2

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