ClinVar Miner

List of variants reported as likely 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: 11
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HGVS dbSNP
NM_000067.3(CA2):c.472A>G (p.Lys158Glu)
NM_000430.4(PAFAH1B1):c.1142A>G (p.His381Arg)
NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro) rs1057518963
NM_003688.3(CASK):c.2221+1delinsAT rs1555975523
NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly) rs375761808
NM_006828.4(ASCC3):c.801+1G>T
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_016955.4(SEPSECS):c.388+5G>A rs1057518887
NM_024596.5(MCPH1):c.2002del (p.Asp668fs)
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152

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