ClinVar Miner

List of variants reported as benign for Episodic ataxia type 5 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000726.5(CACNB4):c.*5385C>T rs1568673 0.93666
NM_000726.5(CACNB4):c.*442G>A rs7597215 0.39502
NM_000726.5(CACNB4):c.*3804G>C rs2344734 0.33115
NM_000726.5(CACNB4):c.*1185T>C rs13410490 0.11625
NM_000726.5(CACNB4):c.*1186G>T rs72868010 0.09750
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=) rs1805028 0.05818
NM_000726.5(CACNB4):c.762T>A (p.Ile254=) rs61736804 0.05586
NM_000726.5(CACNB4):c.*5029T>C rs16830412 0.05230
NM_000726.5(CACNB4):c.*890G>C rs78697588 0.04946
NM_000726.5(CACNB4):c.*4771G>A rs80248494 0.03690
NM_000726.5(CACNB4):c.*3157T>A rs10497086 0.02802
NM_000726.5(CACNB4):c.*1656T>C rs62174451 0.02784
NM_000726.5(CACNB4):c.*2163G>A rs80306085 0.01629
NM_000726.5(CACNB4):c.*2885T>C rs116457978 0.01588
NM_000726.5(CACNB4):c.*2778A>C rs114659375 0.01105
NM_000726.5(CACNB4):c.*865G>A rs75365487 0.00969
NM_000726.5(CACNB4):c.*2837A>G rs138327808 0.00888
NM_000726.5(CACNB4):c.*2210A>G rs114341631 0.00772
NM_000726.5(CACNB4):c.*528A>T rs111999910 0.00770
NM_000726.5(CACNB4):c.*2695G>T rs74894311 0.00721
NM_000726.5(CACNB4):c.*5372T>C rs150406641 0.00721
NM_000726.5(CACNB4):c.*2683T>C rs140144615 0.00683
NM_000726.5(CACNB4):c.*1284T>G rs112989362 0.00674
NM_000726.5(CACNB4):c.*4773A>G rs113408437 0.00673
NM_000726.5(CACNB4):c.1303-3T>C rs143442080 0.00617
NM_000726.5(CACNB4):c.-25G>T rs143675846 0.00516
NM_000726.5(CACNB4):c.*2391T>G rs143821304 0.00454
NM_000726.5(CACNB4):c.*2729G>A rs144329745 0.00353
NM_000726.5(CACNB4):c.*6140G>T rs74944346 0.00321
NM_000726.5(CACNB4):c.*5855A>C rs118093432 0.00312
NM_000726.5(CACNB4):c.599-15G>A rs41270209 0.00309
NM_000726.5(CACNB4):c.*1942T>C rs139629003 0.00300
NM_000726.5(CACNB4):c.*1909C>T rs113319414 0.00256
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg) rs200662010 0.00201
NM_000726.5(CACNB4):c.*5622C>T rs187012852 0.00191
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) rs1805029 0.00151
NM_000726.5(CACNB4):c.*1093T>C rs142139235 0.00122
NM_000726.5(CACNB4):c.*3116A>G rs138740858 0.00116
NM_000726.5(CACNB4):c.*1814G>A rs181447432 0.00103
NM_000726.5(CACNB4):c.*4139A>C rs193274639 0.00103
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_000726.5(CACNB4):c.*4969G>A rs537140595 0.00076
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00064
NM_000726.5(CACNB4):c.*4976T>C rs191424720 0.00042
NM_000726.5(CACNB4):c.*5562A>G rs192309143 0.00042
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe) rs542973906 0.00023
NM_000726.5(CACNB4):c.*4T>C rs556761275 0.00019
NM_000726.5(CACNB4):c.*424A>C rs568825260 0.00018
NM_000726.5(CACNB4):c.*4570T>C rs549017506 0.00018
NM_000726.5(CACNB4):c.*1009C>T rs367723727 0.00014
NM_000726.5(CACNB4):c.*4081G>A rs148903851 0.00004
NM_000726.5(CACNB4):c.521+9C>T rs747291810 0.00002
NM_000726.5(CACNB4):c.1310G>A (p.Arg437Gln) rs751754026 0.00001
NM_000726.5(CACNB4):c.*443A>G rs538829019
NM_000726.5(CACNB4):c.40G>C (p.Gly14Arg) rs573977862

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