ClinVar Miner

List of variants in gene GNA11 studied for familial hypoparathyroidism

Included ClinVar conditions (13):
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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_002067.5(GNA11):c.705C>T (p.Tyr235=) rs138168314 0.00091
NM_002067.5(GNA11):c.885C>T (p.Phe295=) rs147368872 0.00065
NM_002067.5(GNA11):c.570C>T (p.Ile190=) rs201668624 0.00014
NM_002067.5(GNA11):c.501C>T (p.Ile167=) rs756722832 0.00012
NM_002067.5(GNA11):c.476+13G>A rs371755659 0.00011
NM_002067.5(GNA11):c.240C>T (p.Tyr80=) rs145033220 0.00009
NM_002067.5(GNA11):c.889+14C>T rs369371015 0.00008
NM_002067.5(GNA11):c.489C>T (p.Asp163=) rs141926949 0.00007
NM_002067.5(GNA11):c.605+10G>A rs535105766 0.00006
NM_002067.5(GNA11):c.287C>T (p.Thr96Met) rs756991534 0.00005
NM_002067.5(GNA11):c.322-5C>T rs773020890 0.00005
NM_002067.5(GNA11):c.889+4C>T rs375701661 0.00004
NM_002067.5(GNA11):c.912G>A (p.Ala304=) rs145170690 0.00004
NM_002067.5(GNA11):c.915G>A (p.Ala305=) rs750757769 0.00004
NM_002067.5(GNA11):c.462C>T (p.Ser154=) rs200449144 0.00003
NM_002067.5(GNA11):c.633G>A (p.Ser211=) rs756381542 0.00003
NM_002067.5(GNA11):c.889+7C>T rs201814380 0.00003
NM_002067.5(GNA11):c.592A>C (p.Asn198His) rs768371546 0.00002
NM_002067.5(GNA11):c.605+5C>T rs759838121 0.00002
NM_002067.5(GNA11):c.138C>T (p.Gly46=) rs776843648 0.00001
NM_002067.5(GNA11):c.161C>T (p.Thr54Met) rs1335558363 0.00001
NM_002067.5(GNA11):c.477-12G>A rs766787225 0.00001
NM_002067.5(GNA11):c.549C>T (p.Arg183=) rs758392443 0.00001
NM_002067.5(GNA11):c.606-6T>C rs371052478 0.00001
NM_002067.5(GNA11):c.805G>A (p.Val269Ile) rs144829732 0.00001
NM_002067.5(GNA11):c.987G>A (p.Thr329=) rs375856122 0.00001
NM_002067.5(GNA11):c.1023C>G (p.Phe341Leu) rs140749796
NM_002067.5(GNA11):c.1042A>G (p.Ile348Val)
NM_002067.5(GNA11):c.178C>T (p.Arg60Cys) rs587777021
NM_002067.5(GNA11):c.179G>T (p.Arg60Leu) rs587777707
NM_002067.5(GNA11):c.205del (p.Glu69fs)
NM_002067.5(GNA11):c.239A>T (p.Tyr80Phe)
NM_002067.5(GNA11):c.29G>A (p.Cys10Tyr)
NM_002067.5(GNA11):c.314A>G (p.Gln105Arg)
NM_002067.5(GNA11):c.322-10G>A rs368874580
NM_002067.5(GNA11):c.446G>A (p.Arg149His)
NM_002067.5(GNA11):c.447C>T (p.Arg149=)
NM_002067.5(GNA11):c.469G>A (p.Ala157Thr)
NM_002067.5(GNA11):c.477-12G>T
NM_002067.5(GNA11):c.477-14C>T
NM_002067.5(GNA11):c.485C>G (p.Thr162Ser)
NM_002067.5(GNA11):c.542G>A (p.Arg181Gln) rs587777020
NM_002067.5(GNA11):c.595A>G (p.Ile199Val)
NM_002067.5(GNA11):c.606-16C>A
NM_002067.5(GNA11):c.606-2A>G
NM_002067.5(GNA11):c.632C>G (p.Ser211Trp) rs587777022
NM_002067.5(GNA11):c.778A>G (p.Thr260Ala)
NM_002067.5(GNA11):c.880G>A (p.Glu294Lys)
NM_002067.5(GNA11):c.889+15G>A
NM_002067.5(GNA11):c.889+5G>A rs768590899
NM_002067.5(GNA11):c.889+5G>T
NM_002067.5(GNA11):c.899G>A (p.Arg300Gln)
NM_002067.5(GNA11):c.916C>T (p.Arg306Trp)
NM_002067.5(GNA11):c.940G>T (p.Val314Leu)
NM_002067.5(GNA11):c.984C>A (p.Phe328Leu)

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