ClinVar Miner

List of variants reported as uncertain significance for cerebellar disorder by Broad Institute Rare Disease Group, Broad Institute

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_152703.5(SAMD9L):c.1617_1618del (p.Gly541fs) rs1584279870 0.00001
GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0
NM_001114748.2(TMEM240):c.47C>A (p.Ser16Ter)
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val) rs372012542
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro) rs1583187059
NM_001271696.3(ABCB7):c.1936-3C>G rs1602330362
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp) rs767260373
NM_001961.4(EEF2):c.442del (p.Ala148fs)
NM_003383.5(VLDLR):c.1374del (p.Glu460fs) rs1586653366
NM_005898.5(CAPRIN1):c.1535C>T (p.Pro512Leu)
NM_015289.5(VPS39):c.442-2A>G
NM_017777.4(MKS1):c.959-5C>A rs765242131
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_033064.5(ATCAY):c.552C>G (p.Tyr184Ter)
NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer) rs1064793681

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