ClinVar Miner

List of variants reported as likely pathogenic for cerebellar hypoplasia-tapetoretinal degeneration syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NC_000023.11:g.41506506_41542250del
NM_000067.3(CA2):c.472A>G (p.Lys158Glu)
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.584A>G (p.His195Arg) rs1596489887
NM_000430.4(PAFAH1B1):c.1142A>G (p.His381Arg)
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897
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_014023.4(WDR37):c.356C>T (p.Ser119Phe) rs1589088690
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) rs1554823375
NM_014023.4(WDR37):c.386C>G (p.Ser129Cys) rs1589088702
NM_014023.4(WDR37):c.389C>T (p.Thr130Ile) rs1589088703
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_016121.5(KCTD3):c.1036_1073del (p.Pro346fs) rs730882243
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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