ClinVar Miner

List of variants reported as likely benign for X-linked lymphoproliferative disease due to XIAP deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001167.4(XIAP):c.688G>A (p.Val230Ile) rs144884904 0.00036
NM_001167.4(XIAP):c.978G>A (p.Gly326=) rs376282989 0.00035
NM_001167.4(XIAP):c.1242A>G (p.Leu414=) rs147262472 0.00016
NM_001167.4(XIAP):c.73G>C (p.Glu25Gln) rs781204574 0.00013
NM_001167.4(XIAP):c.962C>G (p.Ala321Gly) rs182340753 0.00007
NM_001167.4(XIAP):c.1100A>G (p.Asp367Gly) rs200273554 0.00006
NM_001167.4(XIAP):c.1149G>A (p.Gly383=) rs374184914 0.00005
NM_001167.4(XIAP):c.933G>A (p.Lys311=) rs749597959 0.00005
NM_001167.4(XIAP):c.870T>C (p.Tyr290=) rs770461720 0.00003
NM_001167.4(XIAP):c.1071G>A (p.Glu357=) rs369835712 0.00002
NM_001167.4(XIAP):c.1191T>G (p.Ile397Met) rs760574724 0.00002
NM_001167.4(XIAP):c.1437C>T (p.Asp479=) rs781127670 0.00002
NM_001167.4(XIAP):c.283G>A (p.Gly95Ser) rs745844064 0.00002
NM_001167.4(XIAP):c.435G>T (p.Gln145His) rs759909620 0.00002
NM_001167.4(XIAP):c.446T>C (p.Ile149Thr) rs774308309 0.00002
NM_001167.4(XIAP):c.1100-14A>C rs753279953 0.00001
NM_001167.4(XIAP):c.183G>T (p.Val61=) rs144938731 0.00001
NM_001167.4(XIAP):c.549G>A (p.Glu183=) rs1308704581 0.00001
NM_001167.4(XIAP):c.606T>C (p.Cys202=) rs777129433 0.00001
NM_001167.4(XIAP):c.878-4G>A rs371671137 0.00001
NM_001167.4(XIAP):c.1053T>C (p.Cys351=) rs2053405322
NM_001167.4(XIAP):c.1056+13T>A
NM_001167.4(XIAP):c.1056+21_1056+22del rs2148096290
NM_001167.4(XIAP):c.1056+28_1056+60dup
NM_001167.4(XIAP):c.1057-20A>G
NM_001167.4(XIAP):c.1100-14A>T
NM_001167.4(XIAP):c.1101T>C (p.Asp367=) rs2148107324
NM_001167.4(XIAP):c.1257A>G (p.Lys419=)
NM_001167.4(XIAP):c.1300+10G>T
NM_001167.4(XIAP):c.1300+12T>G
NM_001167.4(XIAP):c.1300+17T>C rs2148107543
NM_001167.4(XIAP):c.1301-17A>T
NM_001167.4(XIAP):c.1301-20A>C rs1424655367
NM_001167.4(XIAP):c.1301-6_1301-5del
NM_001167.4(XIAP):c.1314A>G (p.Glu438=) rs199833128
NM_001167.4(XIAP):c.1323A>G (p.Leu441=) rs2148112163
NM_001167.4(XIAP):c.1380C>T (p.Ile460=)
NM_001167.4(XIAP):c.1452C>T (p.Cys484=)
NM_001167.4(XIAP):c.168T>C (p.Gly56=)
NM_001167.4(XIAP):c.180C>T (p.Thr60=)
NM_001167.4(XIAP):c.18T>C (p.Phe6=)
NM_001167.4(XIAP):c.249C>T (p.His83=)
NM_001167.4(XIAP):c.261C>T (p.Ser87=)
NM_001167.4(XIAP):c.300T>C (p.Asn100=) rs2148089584
NM_001167.4(XIAP):c.327T>C (p.Gly109=)
NM_001167.4(XIAP):c.369C>T (p.Ser123=)
NM_001167.4(XIAP):c.408T>C (p.His136=)
NM_001167.4(XIAP):c.438T>G (p.Val146=)
NM_001167.4(XIAP):c.465G>A (p.Pro155=)
NM_001167.4(XIAP):c.486T>C (p.Ser162=) rs2053349352
NM_001167.4(XIAP):c.491A>G (p.Glu164Gly)
NM_001167.4(XIAP):c.588C>T (p.Asp196=)
NM_001167.4(XIAP):c.666A>G (p.Arg222=)
NM_001167.4(XIAP):c.72A>G (p.Val24=) rs1209504379
NM_001167.4(XIAP):c.738T>C (p.Ser246=)
NM_001167.4(XIAP):c.804G>A (p.Arg268=)
NM_001167.4(XIAP):c.819G>A (p.Gly273=) rs2148090248
NM_001167.4(XIAP):c.877+8_877+9del rs1355498168
NM_001167.4(XIAP):c.978-6G>A

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