ClinVar Miner

List of variants studied for cerebellar hypoplasia-tapetoretinal degeneration syndrome by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (19):
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ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val) rs532329866 0.00015
NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys) rs782785654 0.00005
NM_001394062.1(MACF1):c.22313G>A (p.Arg7438Gln) rs1218844508 0.00001
NM_020320.5(RARS2):c.1650+5G>A rs750433723 0.00001
NM_020320.5(RARS2):c.848T>A (p.Leu283Gln) rs1258569046 0.00001
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001069.3(TUBB2A):c.741C>G (p.Asn247Lys) rs886037663
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) rs1131691643
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001349338.3(FOXP1):c.622C>T (p.Gln208Ter) rs1553709881
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.1439G>C (p.Arg480Thr) rs1569240005
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln) rs1057520719
NM_001367721.1(CASK):c.2120dup (p.Tyr708fs) rs1569295677
NM_001367721.1(CASK):c.2156-1G>A rs1569291261
NM_001367721.1(CASK):c.533-2A>G rs1569380062
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) rs794727270
NM_001371928.1(AHDC1):c.997del (p.Ala333fs) rs1557667078
NM_006009.4(TUBA1A):c.180G>T (p.Lys60Asn) rs1565627707
NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu) rs1569234334
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) rs1554823375
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro) rs1563183469
NM_017412.4(FZD3):c.1616dup (p.Asp539fs) rs1563406024
NM_022893.4(BCL11A):c.1601_1631del (p.Val534fs) rs1558612412
NM_022893.4(BCL11A):c.295del (p.Val99fs) rs1558519119
NM_023110.3(FGFR1):c.1881G>C (p.Arg627Ser) rs1563436265
NM_032108.4(SEMA6B):c.1834G>A (p.Val612Met) rs1279041694
Single allele

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