ClinVar Miner

List of variants in gene combination LOC130008987, ORAI1 reported as likely benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_032790.4(ORAI1):c.121G>A (p.Gly41Arg) rs782650611 0.11673
NM_032790.4(ORAI1):c.132A>G (p.Pro44=) rs554617167 0.00402
NC_000012.12:g.121626882_121626883insT rs375895928 0.00381
NM_032790.4(ORAI1):c.49C>T (p.Pro17Ser) rs568054544 0.00146
NC_000012.12:g.121626865G>A rs782246766 0.00005
NM_032790.4(ORAI1):c.240C>T (p.Tyr80=) rs199715755 0.00002
NM_032790.4(ORAI1):c.279G>C (p.Ser93=) rs562258866 0.00002
NC_000012.12:g.121626784C>G rs1330700530 0.00001
NC_000012.12:g.121626885G>C rs1555322555 0.00001
NC_000012.12:g.121626894C>T rs1305999158 0.00001
NC_000012.12:g.121626946A>C rs557887137 0.00001
NC_000012.12:g.121626954C>T rs1566466065 0.00001
NC_000012.12:g.121626990G>A rs782500934 0.00001
NM_032790.4(ORAI1):c.72C>T (p.Thr24=) rs1224617364 0.00001
NC_000012.12:g.121626811C>T rs1555322491
NC_000012.12:g.121626817C>T rs1273511135
NC_000012.12:g.121626826C>G
NC_000012.12:g.121626862G>T
NC_000012.12:g.121626871G>A rs782427834
NC_000012.12:g.121626882G>T rs1227828097
NC_000012.12:g.121626885G>T rs1555322555
NC_000012.12:g.121626888G>A rs1555322557
NC_000012.12:g.121626897C>T
NC_000012.12:g.121626903C>T
NC_000012.12:g.121626942C>T
NC_000012.12:g.121626957C>G rs2136842002
NC_000012.12:g.121626957C>T
NC_000012.12:g.121626963G>A rs1892793910
NC_000012.12:g.121626972C>G
NC_000012.12:g.121627041C>T
NM_032790.4(ORAI1):c.102C>T (p.Ser34=)
NM_032790.4(ORAI1):c.113_121delAGCCCCCGG (p.Glu38_Pro40del) rs781971569
NM_032790.4(ORAI1):c.131CGC[2][1] (p.Pro46Hisfs) rs782510098
NM_032790.4(ORAI1):c.132A>C (p.Pro44=) rs554617167
NM_032790.4(ORAI1):c.135G>C (p.Pro45=) rs1227828097
NM_032790.4(ORAI1):c.159G>C (p.Pro53=)
NM_032790.4(ORAI1):c.171C>G (p.Gly57=)
NM_032790.4(ORAI1):c.180C>T (p.Tyr60=)
NM_032790.4(ORAI1):c.201C>T (p.Asn67=)
NM_032790.4(ORAI1):c.21G>A (p.Pro7=)
NM_032790.4(ORAI1):c.246C>T (p.Ser82=)
NM_032790.4(ORAI1):c.264C>G (p.Ala88=)
NM_032790.4(ORAI1):c.271C>A (p.Arg91=)
NM_032790.4(ORAI1):c.282T>C (p.Ala94=)
NM_032790.4(ORAI1):c.303+13C>T
NM_032790.4(ORAI1):c.54A>G (p.Pro18=)
NM_032790.4(ORAI1):c.63C>T (p.Gly21=)
NM_032790.4(ORAI1):c.6T>C (p.His2=)

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