ClinVar Miner

List of variants in gene GLIS3 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro) rs806052 0.99890
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln) rs6415788 0.62075
NM_001042413.2(GLIS3):c.2686C>T (p.Leu896Phe) rs76094493 0.03919
NM_001042413.2(GLIS3):c.1536C>A (p.Asp512Glu) rs148199056 0.01645
NM_001042413.2(GLIS3):c.938G>C (p.Gly313Ala) rs35154632 0.01104
NM_001042413.2(GLIS3):c.171C>T (p.Asn57=) rs117802495 0.00947
NM_001042413.2(GLIS3):c.2089G>A (p.Val697Met) rs148816140 0.00229
NM_001042413.2(GLIS3):c.1430C>T (p.Ala477Val) rs114838275 0.00207
NM_001042413.2(GLIS3):c.893C>A (p.Ser298Tyr) rs148572278 0.00199
NM_001042413.2(GLIS3):c.1092G>T (p.Pro364=) rs74680081 0.00172
NM_001042413.2(GLIS3):c.954C>T (p.Thr318=) rs75564360 0.00165
NM_001042413.2(GLIS3):c.1044C>T (p.Tyr348=) rs146238548 0.00086
NM_001042413.2(GLIS3):c.2340G>A (p.Arg780=) rs147473975 0.00086
NM_001042413.2(GLIS3):c.61A>G (p.Arg21Gly) rs199527360 0.00086
NM_001042413.2(GLIS3):c.1872C>T (p.Thr624=) rs140309338 0.00068
NM_001042413.2(GLIS3):c.2096G>A (p.Arg699His) rs149840771 0.00023
NM_001042413.2(GLIS3):c.1395T>C (p.His465=) rs752606768 0.00006
NM_001042413.2(GLIS3):c.2159G>A (p.Arg720Gln) rs200316055 0.00005
NM_001042413.2(GLIS3):c.1263C>T (p.Asp421=) rs755713904 0.00003
NM_001042413.2(GLIS3):c.1471G>A (p.Gly491Arg) rs562740663
NM_001042413.2(GLIS3):c.3G>A (p.Met1Ile) rs1198183960
NM_001042413.2(GLIS3):c.728dup (p.Asn244fs) rs2130882939

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