ClinVar Miner

List of variants reported for Pontocerebellar hypoplasia type 7 by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_025077.4(TOE1):c.757C>T (p.Arg253Trp) rs368182654 0.00005
NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr) rs148067486 0.00003
NM_025077.4(TOE1):c.219G>C (p.Arg73Ser) rs774056037 0.00001
NM_025077.4(TOE1):c.307G>A (p.Ala103Thr) rs371848318 0.00001
NM_025077.4(TOE1):c.518T>G (p.Val173Gly) rs777030573 0.00001
NM_025077.4(TOE1):c.716T>C (p.Phe239Ser) rs778263701 0.00001
NM_025077.4(TOE1):c.955C>T (p.His319Tyr) rs750266350 0.00001
NM_025077.4(TOE1):c.1487C>T (p.Ser496Phe) rs1570626350
NM_025077.4(TOE1):c.658G>A (p.Glu220Lys) rs1570621473
NM_025077.4(TOE1):c.693T>A (p.Tyr231Ter) rs1570621555
NM_025077.4(TOE1):c.937C>G (p.Pro313Ala) rs1557531984
NM_025077.4(TOE1):c.957C>T (p.His319=) rs758153898

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