ClinVar Miner

List of variants in gene CD247 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_198053.3(CD247):c.397C>T (p.Arg133Trp) rs751981677 0.00013
NM_198053.3(CD247):c.167G>T (p.Ser56Ile) rs372651048 0.00011
NM_198053.3(CD247):c.275G>A (p.Arg92Gln) rs367690333 0.00011
NM_198053.3(CD247):c.148T>C (p.Phe50Leu) rs147458563 0.00008
NM_198053.3(CD247):c.310A>G (p.Lys104Glu) rs145505909 0.00008
NM_198053.3(CD247):c.220-3T>C rs369712780 0.00005
NM_198053.3(CD247):c.155G>A (p.Arg52Lys) rs368651001 0.00004
NM_198053.3(CD247):c.274C>T (p.Arg92Trp) rs144963570 0.00004
NM_198053.3(CD247):c.288G>T (p.Met96Ile) rs139926301 0.00004
NM_198053.3(CD247):c.300G>A (p.Pro100=) rs541120315 0.00004
NM_198053.3(CD247):c.491G>A (p.Arg164His) rs201937405 0.00004
NM_198053.3(CD247):c.398G>A (p.Arg133Gln) rs147527561 0.00003
NM_198053.3(CD247):c.463G>A (p.Ala155Thr) rs561262982 0.00003
NM_198053.3(CD247):c.58+8C>T rs201494226 0.00003
NM_198053.3(CD247):c.250G>C (p.Asp84His) rs753572867 0.00002
NM_198053.3(CD247):c.253G>A (p.Val85Ile) rs371709798 0.00002
NM_198053.3(CD247):c.28G>T (p.Ala10Ser) rs753889129 0.00002
NM_198053.3(CD247):c.394C>T (p.Arg132Cys) rs781510519 0.00002
NM_198053.3(CD247):c.427C>T (p.Gln143Ter) rs759213998 0.00002
NM_198053.3(CD247):c.111A>T (p.Gly37=) rs201451004 0.00001
NM_198053.3(CD247):c.175G>A (p.Ala59Thr) rs767112686 0.00001
NM_198053.3(CD247):c.263A>G (p.Lys88Arg) rs143180729 0.00001
NM_198053.3(CD247):c.268C>T (p.Arg90Cys) rs148513413 0.00001
NM_198053.3(CD247):c.269G>A (p.Arg90His) rs1162990874 0.00001
NM_198053.3(CD247):c.27G>A (p.Ala9=) rs757294201 0.00001
NM_198053.3(CD247):c.289G>A (p.Gly97Arg) rs56297636 0.00001
NM_198053.3(CD247):c.300+3A>G rs1259655555 0.00001
NM_198053.3(CD247):c.359C>T (p.Ala120Val) rs745871212 0.00001
NM_198053.3(CD247):c.386A>G (p.Lys129Arg) rs756340039 0.00001
NM_198053.3(CD247):c.490C>T (p.Arg164Cys) rs752198795 0.00001
NM_198053.3(CD247):c.495A>C (p.Ter165Tyr) rs1651272129 0.00001
NC_000001.10:g.(?_167400898)_(167487722_?)dup
NC_000001.10:g.(?_167400918)_(167410024_?)dup
NM_198053.3(CD247):c.112A>G (p.Ile38Val) rs749227138
NM_198053.3(CD247):c.128G>T (p.Gly43Val) rs1557996000
NM_198053.3(CD247):c.162+8C>A rs1571515476
NM_198053.3(CD247):c.182C>T (p.Ala61Val)
NM_198053.3(CD247):c.187G>C (p.Ala63Pro) rs55893506
NM_198053.3(CD247):c.191A>G (p.Tyr64Cys)
NM_198053.3(CD247):c.206A>C (p.Asn69Thr)
NM_198053.3(CD247):c.227A>G (p.Asn76Ser) rs943679483
NM_198053.3(CD247):c.235C>G (p.Arg79Gly) rs779397562
NM_198053.3(CD247):c.250G>A (p.Asp84Asn) rs753572867
NM_198053.3(CD247):c.250G>T (p.Asp84Tyr) rs753572867
NM_198053.3(CD247):c.251A>C (p.Asp84Ala) rs181746205
NM_198053.3(CD247):c.25G>A (p.Ala9Thr)
NM_198053.3(CD247):c.26C>T (p.Ala9Val) rs200420054
NM_198053.3(CD247):c.308G>A (p.Arg103Lys)
NM_198053.3(CD247):c.350A>G (p.Asp117Gly) rs2101986573
NM_198053.3(CD247):c.365C>G (p.Ala122Gly)
NM_198053.3(CD247):c.370A>T (p.Ser124Cys) rs1651406974
NM_198053.3(CD247):c.37C>A (p.Gln13Lys) rs751300208
NM_198053.3(CD247):c.390C>T (p.Gly130=)
NM_198053.3(CD247):c.394-19T>G
NM_198053.3(CD247):c.395G>A (p.Arg132His)
NM_198053.3(CD247):c.401G>A (p.Arg134Lys)
NM_198053.3(CD247):c.430-6C>A
NM_198053.3(CD247):c.44A>T (p.Gln15Leu)
NM_198053.3(CD247):c.45G>C (p.Gln15His)
NM_198053.3(CD247):c.488C>G (p.Pro163Arg)
NM_198053.3(CD247):c.58+6G>T

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