ClinVar Miner

List of variants reported as uncertain significance for hyperimmunoglobulinemia D with periodic fever by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.*332C>T rs574536495 0.00175
NM_000431.4(MVK):c.*601G>A rs536969522 0.00170
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_000431.4(MVK):c.*75T>G rs138924471 0.00071
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_000431.4(MVK):c.371+13T>C rs201201471 0.00034
NM_000431.4(MVK):c.*468C>T rs768794506 0.00032
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290 0.00025
NM_000431.4(MVK):c.*358G>A rs575863113 0.00021
NM_000431.4(MVK):c.*431C>T rs72648044 0.00021
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329 0.00009
NM_000431.4(MVK):c.331G>A (p.Ala111Thr) rs371257609 0.00007
NM_000431.4(MVK):c.-15G>A rs567278499 0.00006
NM_000431.4(MVK):c.527+10G>A rs368909134 0.00006
NM_000431.4(MVK):c.*333G>A rs770255513 0.00005
NM_000431.4(MVK):c.14T>C (p.Val5Ala) rs141765653 0.00004
NM_000431.4(MVK):c.*486C>T rs1359708981 0.00003
NM_000431.4(MVK):c.-33G>A rs886048930 0.00003
NM_000431.4(MVK):c.-55G>C rs886048929 0.00003
NM_000431.4(MVK):c.258G>A (p.Glu86=) rs139299227 0.00003
NM_000431.4(MVK):c.857C>T (p.Pro286Leu) rs104895379 0.00003
NM_000431.4(MVK):c.178C>T (p.Arg60Trp) rs202167435 0.00002
NM_000431.4(MVK):c.317G>A (p.Arg106His) rs778337320 0.00002
NM_000431.4(MVK):c.78+8G>A rs766391278 0.00002
NM_000431.4(MVK):c.870G>T (p.Gln290His) rs376025633 0.00002
NM_000431.4(MVK):c.*550G>A rs886048936 0.00001
NM_000431.4(MVK):c.1163G>A (p.Arg388Gln) rs886048934 0.00001
NM_000431.4(MVK):c.484G>A (p.Glu162Lys) rs200457031 0.00001
NM_000431.4(MVK):c.527+13C>A rs199670546 0.00001
NM_000431.4(MVK):c.527+8T>C rs377547988 0.00001
NM_000431.4(MVK):c.*125G>T rs541159703
NM_000431.4(MVK):c.*308G>A rs886048935
NM_000431.4(MVK):c.*566G>C rs1473857064
NM_000431.4(MVK):c.*571G>A rs548094591
NM_000431.4(MVK):c.302G>A (p.Cys101Tyr) rs886048931
NM_000431.4(MVK):c.33G>A (p.Pro11=) rs779289416
NM_000431.4(MVK):c.37A>C (p.Lys13Gln) rs104895307
NM_000431.4(MVK):c.598C>T (p.Pro200Ser) rs886048932
NM_052845.4(MMAB):c.-11C>G rs1228106972

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