ClinVar Miner

List of variants studied for pontocerebellar hypoplasia type 4 by Mendelics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn) rs9911502 0.58492
NM_207346.3(TSEN54):c.114T>G (p.His38Gln) rs8079373 0.19277
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_207346.3(TSEN54):c.277T>C (p.Ser93Pro) rs113994151 0.00001
NM_207346.3(TSEN54):c.221+3G>T rs2147005856
NM_207346.3(TSEN54):c.249G>A (p.Arg83=) rs2147006296

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