ClinVar Miner

List of variants studied for cerebellar hypoplasia-tapetoretinal degeneration syndrome

Included ClinVar conditions (31):
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Total variants: 128
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HGVS dbSNP
46;XY;t(3;18)(q13.2;q11.2)dn
GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281)
NC_000023.11:g.41506506_41542250del
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.338C>T (p.Pro113Leu) rs80338700
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.584A>G (p.His195Arg) rs1596489887
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_001170535.3(ATAD3A):c.1217T>G (p.Leu406Arg) rs1570345942
NM_001170629.2(CHD8):c.1880C>G (p.Pro627Arg)
NM_001273.5(CHD4):c.2478T>G (p.Asn826Lys)
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897
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_003383.5(VLDLR):c.*16T>C rs150475109
NM_003383.5(VLDLR):c.*180G>A rs3421
NM_003383.5(VLDLR):c.*460G>A rs550310153
NM_003383.5(VLDLR):c.*48C>T rs368949453
NM_003383.5(VLDLR):c.*490T>G rs886063812
NM_003383.5(VLDLR):c.*517G>C rs886063813
NM_003383.5(VLDLR):c.*551T>C rs8210
NM_003383.5(VLDLR):c.*595_*598dup rs886063814
NM_003383.5(VLDLR):c.*63C>T rs17848373
NM_003383.5(VLDLR):c.*83C>T rs755339168
NM_003383.5(VLDLR):c.-111C>T rs374367278
NM_003383.5(VLDLR):c.-113C>G rs34433332
NM_003383.5(VLDLR):c.-121C>T rs886063803
NM_003383.5(VLDLR):c.-122T>C rs886063802
NM_003383.5(VLDLR):c.-167dup rs886063801
NM_003383.5(VLDLR):c.-171G>C rs35763266
NM_003383.5(VLDLR):c.-19_-18insGGCACCGGC rs1554617688
NM_003383.5(VLDLR):c.-25_-24insATCCAG rs886063807
NM_003383.5(VLDLR):c.-335C>T rs557105742
NM_003383.5(VLDLR):c.-392C>T rs867729388
NM_003383.5(VLDLR):c.-42_-40GGC[4] rs71329437
NM_003383.5(VLDLR):c.-42_-40GGC[5] rs71329437
NM_003383.5(VLDLR):c.-42_-40GGC[7] rs71329437
NM_003383.5(VLDLR):c.-42_-40GGC[9] rs71329437
NM_003383.5(VLDLR):c.-56C>T rs34881325
NM_003383.5(VLDLR):c.-56_-54del rs886063804
NM_003383.5(VLDLR):c.-69A>G rs12379259
NM_003383.5(VLDLR):c.1066+14T>C rs762128149
NM_003383.5(VLDLR):c.1187-3C>T rs11789583
NM_003383.5(VLDLR):c.1458C>T (p.Ala486=) rs6143
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser) rs182216426
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg) rs148487944
NM_003383.5(VLDLR):c.1703+10C>G rs372047946
NM_003383.5(VLDLR):c.1755A>C (p.Gly585=) rs372963310
NM_003383.5(VLDLR):c.175G>A (p.Val59Ile) rs6149
NM_003383.5(VLDLR):c.1791G>A (p.Ala597=) rs115773578
NM_003383.5(VLDLR):c.1838G>A (p.Arg613His) rs35948251
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) rs35339834
NM_003383.5(VLDLR):c.1966C>T (p.Arg656Cys) rs754226022
NM_003383.5(VLDLR):c.2041C>T (p.Leu681=) rs79720897
NM_003383.5(VLDLR):c.2067A>G (p.Gln689=) rs6148
NM_003383.5(VLDLR):c.2103A>C (p.Ser701=) rs886063811
NM_003383.5(VLDLR):c.2416+8G>T rs6145
NM_003383.5(VLDLR):c.24G>A (p.Ala8=) rs34336270
NM_003383.5(VLDLR):c.2546T>C (p.Ile849Thr) rs116082439
NM_003383.5(VLDLR):c.449-12C>T rs73640152
NM_003383.5(VLDLR):c.468C>T (p.Pro156=) rs2242105
NM_003383.5(VLDLR):c.505A>G (p.Arg169Gly) rs777739092
NM_003383.5(VLDLR):c.540C>T (p.Ser180=) rs367872112
NM_003383.5(VLDLR):c.582C>T (p.Gly194=) rs148012674
NM_003383.5(VLDLR):c.692G>A (p.Arg231His) rs767529669
NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp) rs754340855
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met) rs145995735
NM_003383.5(VLDLR):c.792C>T (p.Cys264=) rs141850403
NM_003383.5(VLDLR):c.82+7G>A rs2219143
NM_003383.5(VLDLR):c.862G>T (p.Gly288Cys) rs886063808
NM_003383.5(VLDLR):c.863G>C (p.Gly288Ala) rs886063809
NM_003383.5(VLDLR):c.943+10del rs761373572
NM_003383.5(VLDLR):c.944-5T>C rs35782329
NM_003482.4(KMT2D):c.1628C>T (p.Ser543Leu)
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr) rs121908681
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_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_015330.6(SPECC1L):c.836A>G (p.Glu279Gly)
NM_016121.5(KCTD3):c.1036_1073del (p.Pro346fs) rs730882243
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_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_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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