ClinVar Miner

List of variants reported as likely benign for immune system disorder by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_001558.4(IL10RA):c.337G>A (p.Val113Ile) rs4252303 0.00655
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_000043.6(FAS):c.369G>A (p.Gln123=) rs28362318 0.00529
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_005546.4(ITK):c.1759G>A (p.Val587Ile) rs56005928 0.00337
NM_015991.4(C1QA):c.67G>A (p.Glu23Lys) rs17887074 0.00330
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_001558.4(IL10RA):c.67+8T>C rs200992970 0.00290
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242 0.00282
NM_001558.4(IL10RA):c.696C>T (p.Thr232=) rs4252311 0.00274
NM_001378156.1(C1QB):c.543C>T (p.Asn181=) rs149612866 0.00265
NM_152564.5(VPS13B):c.9330+9A>G rs184381851 0.00261
NM_018344.6(SLC29A3):c.1001A>G (p.Asn334Ser) rs144665176 0.00255
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=) rs147021687 0.00229
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
NM_152564.5(VPS13B):c.4746-14C>T rs112780006 0.00212
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_001737.5(C9):c.133A>T (p.Met45Leu) rs41271047 0.00183
NM_031471.6(FERMT3):c.1317G>A (p.Gln439=) rs72920390 0.00178
NM_032193.4(RNASEH2C):c.468+13G>A rs182000627 0.00178
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_080911.3(UNG):c.533+6G>A rs55812333 0.00163
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600 0.00162
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=) rs61736590 0.00159
NM_032193.4(RNASEH2C):c.-10A>G rs77371161 0.00135
NM_000081.4(LYST):c.8487C>T (p.Ile2829=) rs144597913 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_001364905.1(LRBA):c.3948A>G (p.Gln1316=) rs35154927 0.00125
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=) rs142025489 0.00106
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_139276.3(STAT3):c.1329C>T (p.Thr443=) rs147955721 0.00091
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000022.4(ADA):c.606+10G>A rs201045221 0.00058
NM_000081.4(LYST):c.2363+10dup rs760632806 0.00058
NM_080424.4(SP110):c.1591-9C>T rs202101309 0.00058
NM_000215.4(JAK3):c.2152G>C (p.Val718Leu) rs146837396 0.00056
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_006397.3(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021 0.00038
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00034
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856 0.00026
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val) rs199855658 0.00021
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile) rs4988125 0.00011
NM_012388.4(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116 0.00009
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) rs755925068 0.00007
NM_000081.4(LYST):c.8607A>G (p.Gln2869=) rs369484787 0.00004
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000733.4(CD3E):c.211G>C (p.Asp71His) rs148647954
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570

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