ClinVar Miner

List of variants studied for Hyperinsulinism-hyperammonemia syndrome by Invitae

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Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_005271.5(GLUD1):c.942A>G (p.Leu314=) rs9421572 0.08685
NM_005271.5(GLUD1):c.1060-10T>A rs17096421 0.03225
NM_005271.5(GLUD1):c.342T>C (p.His114=) rs142544510 0.01392
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928 0.00843
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887 0.00818
NM_005271.5(GLUD1):c.909A>C (p.Thr303=) rs113997422 0.00222
NM_005271.5(GLUD1):c.393C>G (p.Val131=) rs147496974 0.00028
NM_005271.5(GLUD1):c.150G>C (p.Arg50=) rs746606279 0.00021
NM_005271.5(GLUD1):c.1402+10G>A rs202067232 0.00016
NM_005271.5(GLUD1):c.1403-11T>C rs886047374 0.00015
NM_005271.5(GLUD1):c.195C>T (p.Asn65=) rs760817479 0.00011
NM_005271.5(GLUD1):c.102G>C (p.Arg34=) rs896457764 0.00009
NM_005271.5(GLUD1):c.468G>A (p.Val156=) rs780979729 0.00009
NM_005271.5(GLUD1):c.585T>C (p.Asp195=) rs756647962 0.00005
NM_005271.5(GLUD1):c.48C>G (p.Pro16=) rs1313982001 0.00004
NM_005271.5(GLUD1):c.1568G>A (p.Arg523His) rs761933718 0.00003
NM_005271.5(GLUD1):c.154C>A (p.His52Asn) rs750420022 0.00002
NM_005271.5(GLUD1):c.330G>A (p.Lys110=) rs199752396 0.00002
NM_005271.5(GLUD1):c.432G>T (p.Thr144=) rs1423075857 0.00002
NM_005271.5(GLUD1):c.526+11G>A rs757850230 0.00002
NM_005271.5(GLUD1):c.527-4T>G rs779153065 0.00002
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337 0.00001
NM_005271.5(GLUD1):c.1181C>T (p.Pro394Leu) rs777564388 0.00001
NM_005271.5(GLUD1):c.136G>A (p.Ala46Thr) rs780956934 0.00001
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=) rs774771496 0.00001
NM_005271.5(GLUD1):c.168G>A (p.Ala56=) rs930453131 0.00001
NM_005271.5(GLUD1):c.200T>C (p.Phe67Ser) rs1401755923 0.00001
NM_005271.5(GLUD1):c.527-12C>T rs780201965 0.00001
NM_005271.5(GLUD1):c.594G>A (p.Leu198=) rs781638449 0.00001
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417 0.00001
NM_005271.5(GLUD1):c.635A>G (p.Lys212Arg) rs761375132 0.00001
NM_005271.5(GLUD1):c.646+3A>G rs1846331910 0.00001
NC_000010.10:g.(?_88811508)_(88822612_?)dup
NC_000010.10:g.(?_88854062)_(88854526_?)del
NM_005271.5(GLUD1):c.1006A>G (p.Ser336Gly)
NM_005271.5(GLUD1):c.1026T>C (p.Gly342=)
NM_005271.5(GLUD1):c.1078_1079insAGTCCATTCTGG (p.Leu359_Gly360insGluSerIleLeu) rs1845910499
NM_005271.5(GLUD1):c.107A>G (p.Gln36Arg)
NM_005271.5(GLUD1):c.108G>A (p.Gln36=)
NM_005271.5(GLUD1):c.1122C>T (p.Ala374=)
NM_005271.5(GLUD1):c.1132A>G (p.Ile378Val) rs1589358775
NM_005271.5(GLUD1):c.1175A>G (p.Asn392Ser)
NM_005271.5(GLUD1):c.1197+20C>G
NM_005271.5(GLUD1):c.1197+5C>A
NM_005271.5(GLUD1):c.1198-11CT[2] rs753448342
NM_005271.5(GLUD1):c.1198-9C>G rs201421730
NM_005271.5(GLUD1):c.1198-9C>T
NM_005271.5(GLUD1):c.1209A>G (p.Glu403=)
NM_005271.5(GLUD1):c.122_148del (p.Pro41_Ala49del)
NM_005271.5(GLUD1):c.1249T>A (p.Phe417Ile) rs2133794123
NM_005271.5(GLUD1):c.1279-19G>T
NM_005271.5(GLUD1):c.133C>T (p.Leu45=) rs2133875409
NM_005271.5(GLUD1):c.1344T>C (p.His448=) rs1845866673
NM_005271.5(GLUD1):c.1358G>A (p.Arg453His)
NM_005271.5(GLUD1):c.1403-11dup rs550609501
NM_005271.5(GLUD1):c.1442A>T (p.His481Leu) rs1169592069
NM_005271.5(GLUD1):c.1454T>C (p.Ile485Thr) rs2133788934
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)
NM_005271.5(GLUD1):c.1466C>T (p.Pro489Leu) rs2133788907
NM_005271.5(GLUD1):c.1479C>A (p.Phe493Leu) rs2133788865
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005271.5(GLUD1):c.1495-14C>A rs2133777461
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser) rs121909733
NM_005271.5(GLUD1):c.1507A>G (p.Lys503Glu) rs2133777379
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr) rs121909730
NM_005271.5(GLUD1):c.1557+12G>A rs201872390
NM_005271.5(GLUD1):c.1558-5T>A
NM_005271.5(GLUD1):c.1593A>T (p.Gly531=)
NM_005271.5(GLUD1):c.1617T>C (p.Tyr539=)
NM_005271.5(GLUD1):c.1637T>C (p.Val546Ala) rs2133773089
NM_005271.5(GLUD1):c.1647G>A (p.Val549=) rs756484571
NM_005271.5(GLUD1):c.1647G>C (p.Val549=)
NM_005271.5(GLUD1):c.174C>A (p.Ala58=)
NM_005271.5(GLUD1):c.178C>A (p.Arg60Ser)
NM_005271.5(GLUD1):c.203A>G (p.Lys68Arg)
NM_005271.5(GLUD1):c.212A>C (p.Glu71Ala)
NM_005271.5(GLUD1):c.247G>A (p.Asp83Asn)
NM_005271.5(GLUD1):c.273C>T (p.Thr91=)
NM_005271.5(GLUD1):c.297G>C (p.Arg99=)
NM_005271.5(GLUD1):c.307C>G (p.Arg103Gly)
NM_005271.5(GLUD1):c.37C>T (p.Arg13Trp)
NM_005271.5(GLUD1):c.3G>A (p.Met1Ile) rs1294286511
NM_005271.5(GLUD1):c.406C>A (p.Arg136=) rs1405119017
NM_005271.5(GLUD1):c.415C>T (p.His139Tyr) rs2133873984
NM_005271.5(GLUD1):c.446-9C>T rs1846404467
NM_005271.5(GLUD1):c.452G>C (p.Arg151Pro) rs777627931
NM_005271.5(GLUD1):c.456C>T (p.Tyr152=) rs1846403678
NM_005271.5(GLUD1):c.526+10C>T
NM_005271.5(GLUD1):c.534G>T (p.Pro178=) rs764675203
NM_005271.5(GLUD1):c.53C>T (p.Ala18Val)
NM_005271.5(GLUD1):c.582+18A>G
NM_005271.5(GLUD1):c.582+7A>G
NM_005271.5(GLUD1):c.646+16_646+17del rs201141455
NM_005271.5(GLUD1):c.647-14C>T
NM_005271.5(GLUD1):c.647-5C>G rs201611802
NM_005271.5(GLUD1):c.655A>G (p.Ile219Val)
NM_005271.5(GLUD1):c.739T>C (p.Tyr247His) rs2133811373
NM_005271.5(GLUD1):c.742-8del
NM_005271.5(GLUD1):c.756C>T (p.His252=)
NM_005271.5(GLUD1):c.771T>G (p.Gly257=) rs144831842
NM_005271.5(GLUD1):c.78G>A (p.Ser26=)
NM_005271.5(GLUD1):c.803G>A (p.Arg268His)
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys) rs56275071
NM_005271.5(GLUD1):c.859G>A (p.Ala287Thr)
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys) rs121909736
NM_005271.5(GLUD1):c.953G>C (p.Arg318Thr) rs121909736
NM_005271.5(GLUD1):c.955T>A (p.Tyr319Asn)
NM_005271.5(GLUD1):c.962A>G (p.His321Arg)
NM_005271.5(GLUD1):c.965G>A (p.Arg322His) rs121909737

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