ClinVar Miner

List of variants reported as likely benign for adolescence-adult electroclinical syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.*881A>T rs6926242 0.90714
NM_018100.4(EFHC1):c.*3144T>A rs3789772 0.70161
NM_018100.4(EFHC1):c.*3406T>C rs6919266 0.36710
NM_018100.4(EFHC1):c.*2972C>G rs9367485 0.18894
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.18650
NM_018100.4(EFHC1):c.*1490C>A rs2397092 0.18321
NM_018100.4(EFHC1):c.*2419A>G rs9474228 0.17191
NM_018100.4(EFHC1):c.*871C>G rs78956562 0.09084
NM_018100.4(EFHC1):c.*3192G>A rs3789771 0.08613
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770 0.06310
NM_018100.3(EFHC1):c.-195A>G rs2296196 0.04417
NM_000726.5(CACNB4):c.*4771G>A rs80248494 0.03690
NM_018100.4(EFHC1):c.*2164G>A rs59722297 0.02831
NM_000726.5(CACNB4):c.*1656T>C rs62174451 0.02784
NM_000726.5(CACNB4):c.*2885T>C rs116457978 0.01717
NM_000726.5(CACNB4):c.*2163G>A rs80306085 0.01698
NM_000726.5(CACNB4):c.*2778A>C rs114659375 0.01105
NM_000726.5(CACNB4):c.*1459T>C rs114958916 0.01102
NM_000726.5(CACNB4):c.*865G>A rs75365487 0.00988
NM_000726.5(CACNB4):c.*2837A>G rs138327808 0.00888
NM_000726.5(CACNB4):c.*528A>T rs111999910 0.00814
NM_000726.5(CACNB4):c.*5372T>C rs150406641 0.00778
NM_000726.5(CACNB4):c.*2210A>G rs114341631 0.00772
NM_000726.5(CACNB4):c.*2695G>T rs74894311 0.00768
NM_000726.5(CACNB4):c.*4773A>G rs113408437 0.00714
NM_000726.5(CACNB4):c.*1284T>G rs112989362 0.00674
NM_000726.5(CACNB4):c.1303-3T>C rs143442080 0.00617
NM_000726.5(CACNB4):c.*2391T>G rs143821304 0.00454
NM_000726.5(CACNB4):c.*2729G>A rs144329745 0.00357
NM_000726.5(CACNB4):c.*6140G>T rs74944346 0.00321
NM_000726.5(CACNB4):c.599-15G>A rs41270209 0.00314
NM_000726.5(CACNB4):c.*5855A>C rs118093432 0.00312
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_018100.4(EFHC1):c.*233T>A rs538486876 0.00193
NM_000726.5(CACNB4):c.*5622C>T rs187012852 0.00191
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) rs1805029 0.00148
NM_000726.5(CACNB4):c.*1093T>C rs142139235 0.00122
NM_000726.5(CACNB4):c.*2188T>G rs548234328 0.00122
NM_000726.5(CACNB4):c.*1814G>A rs181447432 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.*1110C>A rs147608603 0.00074
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
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.*4131A>G rs373381936 0.00036
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe) rs542973906 0.00021
NM_000726.5(CACNB4):c.*4570T>C rs549017506 0.00019
NM_000726.5(CACNB4):c.*4T>C rs556761275 0.00019
NM_000726.5(CACNB4):c.*1009C>T rs367723727 0.00014
NM_000726.5(CACNB4):c.*3475A>T rs567549082 0.00012
NM_000726.5(CACNB4):c.*1910_*1911del rs372743707 0.00011
NM_000726.5(CACNB4):c.*5433A>G rs563567053 0.00004
NM_000726.5(CACNB4):c.*6183A>G rs185830609 0.00004
NM_000726.5(CACNB4):c.177G>A (p.Pro59=) rs552093496 0.00001
NM_000726.5(CACNB4):c.521+9C>T rs747291810 0.00001
NM_000726.4(CACNB4):c.-70G>A rs183873853
NM_000726.5(CACNB4):c.*3668T>C rs543493236
NM_000726.5(CACNB4):c.*443A>G rs538829019
NM_000726.5(CACNB4):c.*787del rs560958457
NM_018100.3(EFHC1):c.-148_-147GC[1] rs796720054
NM_018100.4(EFHC1):c.*1025AT[12] rs59794069
NM_018100.4(EFHC1):c.*1025AT[9] rs59794069
NM_018100.4(EFHC1):c.*1325dup rs35994917
NM_018100.4(EFHC1):c.*392A>C rs9463792
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506

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