ClinVar Miner

List of variants reported as pathogenic for cerebellar hypoplasia-tapetoretinal degeneration syndrome by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000157.4(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.4(GBA):c.882T>G (p.His294Gln) rs367968666
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_002016.1(FLG):c.544A>T (p.Lys182Ter) rs1218912272
NM_003688.3(CASK):c.916-1G>A
NM_020320.5(RARS2):c.1305+1G>A
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152

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