ClinVar Miner

List of variants reported as uncertain significance for immune system disorder by Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) rs756815669 0.00006
NM_001083116.3(PRF1):c.674G>C (p.Arg225Pro) rs140281371
NM_001164277.2(SLC37A4):c.752T>C (p.Leu251Pro) rs1565688326
NM_001370466.1(NOD2):c.1929C>G (p.Asn643Lys) rs104895475
NM_001814.6(CTSC):c.1145A>G (p.His382Arg)
NM_020964.3(EPG5):c.3752T>C (p.Leu1251Pro) rs1568149047

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