ClinVar Miner

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

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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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.338C>T (p.Pro113Leu) rs80338700
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_001170535.3(ATAD3A):c.1217T>G (p.Leu406Arg) rs1570345942
NM_002016.1(FLG):c.544A>T (p.Lys182Ter) rs1218912272
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr) rs121908681
NM_003688.3(CASK):c.916-1G>A
NM_018002.3(OXR1):c.1100C>G (p.Ser367Ter) rs1587174071
NM_018002.3(OXR1):c.1324del (p.Ser442fs)
NM_018002.3(OXR1):c.2082+1G>T rs1587302415
NM_018002.3(OXR1):c.2236-1G>C
NM_020320.5(RARS2):c.1305+1G>A
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152

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