ClinVar Miner

List of variants studied for Wolfram syndrome by Mendelics

Included ClinVar conditions (9):
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ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.713-1075C>G rs6446482 0.62564
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_006005.3(WFS1):c.712+16G>A rs71524367 0.00213
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) rs144951440 0.00019
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269 0.00018
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) rs1443751733 0.00002
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1829del (p.Leu610fs) rs1578611240

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