ClinVar Miner

List of variants studied for immune system disorder by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) rs137901350 0.00066
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_005337.5(NCKAP1L):c.1111A>G (p.Met371Val) rs750982844 0.00003
NM_005337.5(NCKAP1L):c.1076C>T (p.Pro359Leu) rs770633648 0.00002
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275 0.00002
NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter) rs587776942 0.00002
NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His) rs775061512 0.00001
NM_001282933.2(ZNF341):c.904C>T (p.Arg302Ter) rs746141726 0.00001
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter) rs961245497 0.00001
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter) rs866435487 0.00001
NM_020964.3(EPG5):c.1370T>C (p.Leu457Pro) rs746862679 0.00001
NM_020964.3(EPG5):c.2351A>C (p.Gln784Pro) rs754795342 0.00001
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter) rs780889226 0.00001
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064 0.00001
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter) rs767638289 0.00001
NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr) rs376610445 0.00001
NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg) rs1567628757
NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr) rs1567626023
NM_001013838.3(CARMIL2):c.2557C>T (p.Gln853Ter) rs1567632864
NM_001282933.2(ZNF341):c.1156C>T (p.Arg386Ter) rs982121798
NM_001282933.2(ZNF341):c.1647C>G (p.Tyr549Ter) rs376598954
NM_001282933.2(ZNF341):c.583C>T (p.Gln195Ter) rs1568940507
NM_001556.3(IKBKB):c.607G>A (p.Val203Ile) rs1563340753
NM_003120.3(SPI1):c.328C>T (p.Gln110Ter) rs2142884393
NM_003120.3(SPI1):c.363C>A (p.Tyr121Ter) rs2095916574
NM_003120.3(SPI1):c.632A>C (p.His211Pro) rs2095906547
NM_003120.3(SPI1):c.722T>G (p.Val241Gly) rs2095906404
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005337.5(NCKAP1L):c.1555G>C (p.Val519Leu) rs1956961224
NM_005337.5(NCKAP1L):c.773G>T (p.Arg258Leu) rs1956891911
NM_020964.3(EPG5):c.2575G>T (p.Glu859Ter) rs587776941
NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter) rs587776940
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu) rs1085308061
NM_020964.3(EPG5):c.4588C>T (p.Gln1530Ter) rs587776939
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
NM_020964.3(EPG5):c.4783C>T (p.Gln1595Ter) rs1568133724
NM_020964.3(EPG5):c.5479C>G (p.Pro1827Ala) rs1568118775
NM_020964.3(EPG5):c.5966G>A (p.Trp1989Ter) rs1568112543
NM_020964.3(EPG5):c.5993C>G (p.Ser1998Ter) rs1568112516
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_020964.3(EPG5):c.6112T>C (p.Cys2038Arg) rs375057925
NM_020964.3(EPG5):c.6275T>C (p.Leu2092Pro) rs1568104317
NM_020964.3(EPG5):c.7240G>A (p.Glu2414Lys) rs1568094451
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798

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