ClinVar Miner

List of variants in gene G6PC3 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: 147
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HGVS dbSNP gnomAD frequency
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg) rs34491309 0.00334
NM_138387.4(G6PC3):c.-194C>T rs28370440 0.00305
NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln) rs140294222 0.00083
NM_138387.4(G6PC3):c.468G>A (p.Ala156=) rs141663645 0.00061
NM_138387.4(G6PC3):c.1017A>G (p.Glu339=) rs144587192 0.00039
NM_138387.4(G6PC3):c.687C>T (p.Ser229=) rs377343204 0.00011
NM_138387.4(G6PC3):c.726C>T (p.His242=) rs147246080 0.00010
NM_138387.4(G6PC3):c.264T>G (p.Gly88=) rs377286452 0.00009
NM_138387.4(G6PC3):c.699G>A (p.Lys233=) rs529935686 0.00008
NM_138387.4(G6PC3):c.849G>A (p.Lys283=) rs767810900 0.00006
NM_138387.4(G6PC3):c.677+9C>T rs770887459 0.00005
NM_138387.4(G6PC3):c.219-4C>A rs1378892385 0.00004
NM_138387.4(G6PC3):c.480G>A (p.Ser160=) rs145419406 0.00004
NM_138387.4(G6PC3):c.516G>C (p.Val172=) rs763502623 0.00004
NM_138387.4(G6PC3):c.9C>T (p.Ser3=) rs201749454 0.00004
NM_138387.4(G6PC3):c.219-13T>C rs773122600 0.00003
NM_138387.4(G6PC3):c.536-10A>T rs866805011 0.00003
NM_138387.4(G6PC3):c.1032C>T (p.His344=) rs774174457 0.00002
NM_138387.4(G6PC3):c.536-7C>G rs754683713 0.00002
NM_138387.4(G6PC3):c.537C>T (p.Gly179=) rs758478386 0.00002
NM_138387.4(G6PC3):c.21G>T (p.Ala7=) rs1322272335 0.00001
NM_138387.4(G6PC3):c.399G>A (p.Val133=) rs1191355690 0.00001
NM_138387.4(G6PC3):c.42G>A (p.Ala14=) rs778761991 0.00001
NM_138387.4(G6PC3):c.536-12C>A rs766176177 0.00001
NM_138387.4(G6PC3):c.54G>A (p.Gln18=) rs2049967702 0.00001
NM_138387.4(G6PC3):c.573T>C (p.Pro191=) rs1290235695 0.00001
NM_138387.4(G6PC3):c.591C>T (p.Ser197=) rs766506200 0.00001
NM_138387.4(G6PC3):c.642T>C (p.Tyr214=) rs756698645 0.00001
NM_138387.4(G6PC3):c.677+10G>A rs776838775 0.00001
NM_138387.4(G6PC3):c.678-14C>A rs1418045272 0.00001
NM_138387.4(G6PC3):c.879G>A (p.Leu293=) rs780718603 0.00001
NM_138387.4(G6PC3):c.894C>T (p.Asp298=) rs142944376 0.00001
NM_138387.4(G6PC3):c.981C>T (p.Leu327=) rs752964083 0.00001
NM_138387.4(G6PC3):c.1014G>A (p.Gln338=)
NM_138387.4(G6PC3):c.1023G>A (p.Pro341=)
NM_138387.4(G6PC3):c.12G>A (p.Thr4=)
NM_138387.4(G6PC3):c.12G>C (p.Thr4=)
NM_138387.4(G6PC3):c.219-12G>A
NM_138387.4(G6PC3):c.219-12G>T
NM_138387.4(G6PC3):c.219-18G>T
NM_138387.4(G6PC3):c.234C>T (p.Asp78=)
NM_138387.4(G6PC3):c.237G>A (p.Arg79=)
NM_138387.4(G6PC3):c.240C>G (p.Pro80=) rs960728758
NM_138387.4(G6PC3):c.24C>T (p.Gly8=)
NM_138387.4(G6PC3):c.27C>T (p.Ile9=)
NM_138387.4(G6PC3):c.285C>A (p.Ala95=)
NM_138387.4(G6PC3):c.30G>A (p.Val10=)
NM_138387.4(G6PC3):c.30G>C (p.Val10=)
NM_138387.4(G6PC3):c.325+14A>G
NM_138387.4(G6PC3):c.325+14_325+17del
NM_138387.4(G6PC3):c.325+18T>C
NM_138387.4(G6PC3):c.325+20del
NM_138387.4(G6PC3):c.325+8G>A
NM_138387.4(G6PC3):c.326-19C>T
NM_138387.4(G6PC3):c.326-20G>A
NM_138387.4(G6PC3):c.326-7C>T
NM_138387.4(G6PC3):c.327C>A (p.Gly109=)
NM_138387.4(G6PC3):c.345C>T (p.Cys115=)
NM_138387.4(G6PC3):c.384C>G (p.Ala128=)
NM_138387.4(G6PC3):c.384C>T (p.Ala128=)
NM_138387.4(G6PC3):c.393G>A (p.Ser131=)
NM_138387.4(G6PC3):c.408G>A (p.Arg136=)
NM_138387.4(G6PC3):c.416+11G>A
NM_138387.4(G6PC3):c.416+13C>A
NM_138387.4(G6PC3):c.416+13C>T
NM_138387.4(G6PC3):c.416+14A>G
NM_138387.4(G6PC3):c.416+17G>A
NM_138387.4(G6PC3):c.416+19C>G
NM_138387.4(G6PC3):c.416+8C>G
NM_138387.4(G6PC3):c.417-11C>G
NM_138387.4(G6PC3):c.417-11C>T
NM_138387.4(G6PC3):c.417-13C>T
NM_138387.4(G6PC3):c.417-14T>C rs2050055854
NM_138387.4(G6PC3):c.417-15C>G
NM_138387.4(G6PC3):c.417-16C>T
NM_138387.4(G6PC3):c.417-18T>G
NM_138387.4(G6PC3):c.417-19T>G
NM_138387.4(G6PC3):c.417-9T>C
NM_138387.4(G6PC3):c.420C>T (p.Arg140=)
NM_138387.4(G6PC3):c.441C>T (p.Ser147=)
NM_138387.4(G6PC3):c.453C>T (p.Cys151=)
NM_138387.4(G6PC3):c.456C>A (p.Thr152=)
NM_138387.4(G6PC3):c.456C>T (p.Thr152=)
NM_138387.4(G6PC3):c.45A>G (p.Leu15=) rs2144134939
NM_138387.4(G6PC3):c.468G>T (p.Ala156=) rs141663645
NM_138387.4(G6PC3):c.486C>T (p.Ile162=) rs2144149561
NM_138387.4(G6PC3):c.492C>T (p.Ile164=)
NM_138387.4(G6PC3):c.495A>G (p.Leu165=)
NM_138387.4(G6PC3):c.510C>T (p.His170=) rs2050059834
NM_138387.4(G6PC3):c.528A>G (p.Leu176=)
NM_138387.4(G6PC3):c.535+14G>A
NM_138387.4(G6PC3):c.535+14G>C rs756398916
NM_138387.4(G6PC3):c.535+18C>T
NM_138387.4(G6PC3):c.535+19G>A
NM_138387.4(G6PC3):c.535+20G>C
NM_138387.4(G6PC3):c.535+8A>G
NM_138387.4(G6PC3):c.536-11C>T
NM_138387.4(G6PC3):c.536-11_536-7del
NM_138387.4(G6PC3):c.536-14C>T
NM_138387.4(G6PC3):c.536-4C>G rs2144151616
NM_138387.4(G6PC3):c.536-5C>T
NM_138387.4(G6PC3):c.544C>T (p.Leu182=)
NM_138387.4(G6PC3):c.555G>A (p.Leu185=)
NM_138387.4(G6PC3):c.55C>T (p.Leu19=)
NM_138387.4(G6PC3):c.585G>A (p.Glu195=)
NM_138387.4(G6PC3):c.601T>C (p.Leu201=)
NM_138387.4(G6PC3):c.636C>T (p.Leu212=) rs1409898506
NM_138387.4(G6PC3):c.648C>T (p.Thr216=)
NM_138387.4(G6PC3):c.651C>G (p.Leu217=)
NM_138387.4(G6PC3):c.651C>T (p.Leu217=)
NM_138387.4(G6PC3):c.657A>G (p.Thr219=) rs2050074491
NM_138387.4(G6PC3):c.669T>C (p.Asp223=)
NM_138387.4(G6PC3):c.672T>A (p.Leu224=)
NM_138387.4(G6PC3):c.678-16C>T
NM_138387.4(G6PC3):c.678-6C>T
NM_138387.4(G6PC3):c.678-8C>A rs753515098
NM_138387.4(G6PC3):c.678-8C>T
NM_138387.4(G6PC3):c.684C>A (p.Ile228=)
NM_138387.4(G6PC3):c.684C>T (p.Ile228=)
NM_138387.4(G6PC3):c.688C>T (p.Leu230=)
NM_138387.4(G6PC3):c.714T>C (p.Pro238=)
NM_138387.4(G6PC3):c.732T>C (p.Asp244=) rs1597911422
NM_138387.4(G6PC3):c.747C>T (p.Ala249=)
NM_138387.4(G6PC3):c.753G>A (p.Leu251=)
NM_138387.4(G6PC3):c.765A>G (p.Ser255=)
NM_138387.4(G6PC3):c.768G>A (p.Gly256=)
NM_138387.4(G6PC3):c.777G>A (p.Leu259=)
NM_138387.4(G6PC3):c.792C>T (p.Ala264=)
NM_138387.4(G6PC3):c.798C>T (p.His266=) rs558164927
NM_138387.4(G6PC3):c.807C>T (p.Cys269=) rs2144155706
NM_138387.4(G6PC3):c.837A>G (p.Gly279=)
NM_138387.4(G6PC3):c.855C>T (p.Ala285=)
NM_138387.4(G6PC3):c.861T>A (p.Leu287=)
NM_138387.4(G6PC3):c.861T>C (p.Leu287=)
NM_138387.4(G6PC3):c.865C>T (p.Leu289=)
NM_138387.4(G6PC3):c.867G>A (p.Leu289=)
NM_138387.4(G6PC3):c.870C>A (p.Ala290=)
NM_138387.4(G6PC3):c.877C>T (p.Leu293=)
NM_138387.4(G6PC3):c.891G>A (p.Leu297=)
NM_138387.4(G6PC3):c.903C>T (p.Gly301=)
NM_138387.4(G6PC3):c.909C>A (p.Pro303=)
NM_138387.4(G6PC3):c.909C>G (p.Pro303=)
NM_138387.4(G6PC3):c.924C>G (p.Leu308=) rs978510802
NM_138387.4(G6PC3):c.945C>G (p.Leu315=)
NM_138387.4(G6PC3):c.954C>T (p.Thr318=)
NM_138387.4(G6PC3):c.957C>T (p.Leu319=)
NM_138387.4(G6PC3):c.993A>G (p.Ala331=)

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