ClinVar Miner

List of variants in gene GLIS2 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_032575.3(GLIS2):c.*1203C>G rs116981725 0.03086
NM_032575.3(GLIS2):c.70C>A (p.Arg24=) rs34543395 0.00866
NM_032575.3(GLIS2):c.*874C>G rs147214646 0.00712
NM_032575.3(GLIS2):c.1476G>A (p.Thr492=) rs140403969 0.00608
NM_032575.3(GLIS2):c.1464G>A (p.Leu488=) rs149580171 0.00467
NM_032575.3(GLIS2):c.*399T>G rs189481658 0.00375
NM_032575.3(GLIS2):c.*23G>A rs146555568 0.00319
NM_032575.3(GLIS2):c.*796G>C rs111818339 0.00299
NM_032575.3(GLIS2):c.1011G>A (p.Pro337=) rs200814551 0.00156
NM_032575.3(GLIS2):c.477G>A (p.Ser159=) rs148123444 0.00096
NM_032575.3(GLIS2):c.1284G>A (p.Leu428=) rs202243000 0.00046
NM_032575.3(GLIS2):c.*54C>T rs368483996 0.00042
NM_032575.3(GLIS2):c.239A>T (p.Asp80Val) rs144447862 0.00036
NM_032575.3(GLIS2):c.1569G>A (p.Val523=) rs371022001 0.00025
NM_032575.3(GLIS2):c.693C>T (p.Asn231=) rs150071733 0.00025
NM_032575.3(GLIS2):c.1023C>T (p.Ala341=) rs777660944 0.00024
NM_032575.3(GLIS2):c.1180G>A (p.Gly394Ser) rs775114398 0.00024
NM_032575.3(GLIS2):c.1431C>T (p.Pro477=) rs150810544 0.00023
NM_032575.3(GLIS2):c.849C>T (p.His283=) rs200829928 0.00006
NM_032575.3(GLIS2):c.1026C>T (p.Pro342=) rs753999588 0.00005
NM_032575.3(GLIS2):c.1245G>A (p.Pro415=) rs755435780 0.00005
NM_032575.3(GLIS2):c.414C>T (p.Ser138=) rs145025457 0.00005
NM_032575.3(GLIS2):c.789C>T (p.Tyr263=) rs368686815 0.00005
NM_032575.3(GLIS2):c.1128C>T (p.Pro376=) rs750906253 0.00003
NM_032575.3(GLIS2):c.627C>T (p.Cys209=) rs746571582 0.00003
NM_032575.3(GLIS2):c.903C>T (p.His301=) rs371341058 0.00003
NM_032575.3(GLIS2):c.18G>A (p.Glu6=) rs759679058 0.00001
NM_032575.3(GLIS2):c.346-9G>A rs565376002 0.00001
NM_032575.3(GLIS2):c.588C>T (p.Pro196=) rs766508781 0.00001
NM_032575.3(GLIS2):c.657-16G>A rs1011610705 0.00001
NM_032575.3(GLIS2):c.996C>T (p.Arg332=) rs1156423542 0.00001
NM_032575.3(GLIS2):c.1200T>C (p.Pro400=) rs762143375
NM_032575.3(GLIS2):c.1203G>C (p.Gly401=) rs2141135025
NM_032575.3(GLIS2):c.1215C>T (p.Pro405=)
NM_032575.3(GLIS2):c.126G>A (p.Leu42=)
NM_032575.3(GLIS2):c.129G>A (p.Val43=)
NM_032575.3(GLIS2):c.1413C>A (p.Ser471Arg)
NM_032575.3(GLIS2):c.1413C>G (p.Ser471Arg) rs201182025
NM_032575.3(GLIS2):c.165G>A (p.Pro55=)
NM_032575.3(GLIS2):c.172+14G>A
NM_032575.3(GLIS2):c.173-17C>G
NM_032575.3(GLIS2):c.195C>T (p.Phe65=)
NM_032575.3(GLIS2):c.234C>G (p.Leu78=) rs149312212
NM_032575.3(GLIS2):c.255A>G (p.Pro85=)
NM_032575.3(GLIS2):c.346-18C>T
NM_032575.3(GLIS2):c.484C>T (p.Leu162=)
NM_032575.3(GLIS2):c.51C>G (p.Leu17=)
NM_032575.3(GLIS2):c.522+10G>A rs569937790
NM_032575.3(GLIS2):c.522+11G>A
NM_032575.3(GLIS2):c.579T>C (p.His193=)
NM_032575.3(GLIS2):c.57G>A (p.Ala19=)
NM_032575.3(GLIS2):c.600G>A (p.Ala200=)
NM_032575.3(GLIS2):c.600G>C (p.Ala200=) rs186957679
NM_032575.3(GLIS2):c.656+12GA[2]
NM_032575.3(GLIS2):c.714G>A (p.Pro238=)
NM_032575.3(GLIS2):c.765G>A (p.Arg255=) rs2141133274
NM_032575.3(GLIS2):c.768G>A (p.Ser256=)
NM_032575.3(GLIS2):c.775+16C>T
NM_032575.3(GLIS2):c.776-20T>G
NM_032575.3(GLIS2):c.969C>T (p.His323=)

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