ClinVar Miner

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

Included ClinVar conditions (31):
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ClinVar version:
Total variants: 51
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HGVS dbSNP
GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281)
NM_000059.3(BRCA2):c.3861_3863TAA[1] (p.Asn1288del) rs276174837
NM_000067.3(CA2):c.472A>G (p.Lys158Glu)
NM_000090.4(COL3A1):c.884C>T (p.Ala295Val)
NM_000157.4(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.4(GBA):c.882T>G (p.His294Gln) rs367968666
NM_000267.3(NF1):c.5450C>G (p.Ser1817Cys) rs368654378
NM_000284.4(PDHA1):c.1014_1034dup (p.Glu345_Ile346insAspAspValGluValArgLys)
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000430.4(PAFAH1B1):c.1142A>G (p.His381Arg)
NM_000531.6(OTC):c.845A>G (p.Gln282Arg)
NM_000918.4(P4HB):c.1148A>T (p.Asp383Val)
NM_001004356.3(FGFRL1):c.842T>G (p.Leu281Arg)
NM_001123385.2(BCOR):c.4693A>G (p.Thr1565Ala) rs1289349820
NM_001170629.2(CHD8):c.1880C>G (p.Pro627Arg)
NM_001273.5(CHD4):c.2478T>G (p.Asn826Lys)
NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu) rs1057518888
NM_002016.1(FLG):c.544A>T (p.Lys182Ter) rs1218912272
NM_002470.4(MYH3):c.2392A>G (p.Met798Val)
NM_002487.3(NDN):c.472dup (p.Thr158fs)
NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro) rs1057518963
NM_003482.4(KMT2D):c.1628C>T (p.Ser543Leu)
NM_003688.3(CASK):c.2221+1delinsAT rs1555975523
NM_003688.3(CASK):c.916-1G>A
NM_003730.6(RNASET2):c.131C>T (p.Pro44Leu)
NM_003730.6(RNASET2):c.204-14A>G
NM_004522.3(KIF5C):c.1716+9G>A
NM_004958.4(MTOR):c.3109C>G (p.Leu1037Val)
NM_005172.2(ATOH1):c.481C>G (p.Arg161Gly)
NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly) rs375761808
NM_006363.6(SEC23B):c.436G>A (p.Ala146Thr)
NM_006828.4(ASCC3):c.5693A>G (p.His1898Arg)
NM_006828.4(ASCC3):c.801+1G>T
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) rs372047256
NM_012090.5(MACF1):c.14775T>G (p.Asn4925Lys)
NM_012469.4(PRPF6):c.1451A>C (p.Glu484Ala)
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_015330.6(SPECC1L):c.836A>G (p.Glu279Gly)
NM_016953.4(PDE11A):c.1655T>C (p.Ile552Thr) rs138427178
NM_016953.4(PDE11A):c.1660del (p.Cys554fs) rs573163079
NM_016955.4(SEPSECS):c.388+5G>A rs1057518887
NM_018027.5(FRMD4A):c.2837C>T (p.Ser946Leu)
NM_019842.4(KCNQ5):c.49T>C (p.Trp17Arg)
NM_020320.5(RARS2):c.1305+1G>A
NM_024596.5(MCPH1):c.2002del (p.Asp668fs)
NM_024757.5(EHMT1):c.467C>T (p.Pro156Leu)
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554
NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg) rs397517987
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152

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