ClinVar Miner

List of variants in gene HGD reported as likely pathogenic for amino acid metabolism disease

Included ClinVar conditions (436):
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Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_000187.4(HGD):c.260A>C (p.Glu87Ala) rs35702995 0.00416
NM_000187.4(HGD):c.1112A>G (p.His371Arg) rs120074172 0.00012
NM_000187.4(HGD):c.125A>C (p.Glu42Ala) rs373921680 0.00007
NM_000187.4(HGD):c.158G>A (p.Arg53Gln) rs200808744 0.00006
NM_000187.4(HGD):c.365C>T (p.Ala122Val) rs544956641 0.00006
NM_000187.4(HGD):c.808G>A (p.Gly270Arg) rs120074174 0.00006
NM_000187.4(HGD):c.347T>C (p.Leu116Pro) rs569846003 0.00004
NM_000187.4(HGD):c.1336T>C (p.Ter446Arg) rs143370662 0.00002
NM_000187.4(HGD):c.342+1G>T rs397515518 0.00002
NM_000187.4(HGD):c.367G>A (p.Gly123Arg) rs564979861 0.00002
NM_000187.4(HGD):c.11T>A (p.Leu4Ter) rs786204422 0.00001
NM_000187.4(HGD):c.157C>T (p.Arg53Trp) rs759435977 0.00001
NM_000187.4(HGD):c.16-2063A>C rs1168687230 0.00001
NM_000187.4(HGD):c.291G>A (p.Trp97Ter) rs766714128 0.00001
NM_000187.4(HGD):c.343G>C (p.Gly115Arg) rs755734596 0.00001
NM_000187.4(HGD):c.473C>T (p.Pro158Leu) rs375396766 0.00001
NM_000187.4(HGD):c.536T>G (p.Ile179Ser) rs1031569954 0.00001
NM_000187.4(HGD):c.587C>T (p.Thr196Ile) rs781491692 0.00001
NM_000187.4(HGD):c.673C>T (p.Arg225Cys) rs756789146 0.00001
NM_000187.4(HGD):c.674G>A (p.Arg225His) rs562853291 0.00001
NM_000187.4(HGD):c.821C>T (p.Pro274Leu) rs1397264922 0.00001
NM_000187.4(HGD):c.1064dup (p.Gly356fs) rs1057516847
NM_000187.4(HGD):c.1076C>T (p.Pro359Leu)
NM_000187.4(HGD):c.1084G>A (p.Gly362Arg) rs2107489383
NM_000187.4(HGD):c.1114G>A (p.Gly372Arg) rs1940645842
NM_000187.4(HGD):c.1188+1G>T rs760206323
NM_000187.4(HGD):c.1201G>C (p.Glu401Gln) rs767159114
NM_000187.4(HGD):c.127C>G (p.Gln43Glu) rs1243059404
NM_000187.4(HGD):c.1290_1300del (p.Lys431fs) rs1553715351
NM_000187.4(HGD):c.131T>C (p.Leu44Pro) rs1708095030
NM_000187.4(HGD):c.148_149del (p.Thr50fs)
NM_000187.4(HGD):c.15+1G>A rs552207335
NM_000187.4(HGD):c.170del (p.Lys57fs)
NM_000187.4(HGD):c.177-1G>A rs1057517370
NM_000187.4(HGD):c.177-1G>T
NM_000187.4(HGD):c.179G>A (p.Trp60Ter) rs1057516467
NM_000187.4(HGD):c.186T>A (p.Tyr62Ter)
NM_000187.4(HGD):c.283-1G>A rs2107522179
NM_000187.4(HGD):c.302_303insTG (p.Glu101fs)
NM_000187.4(HGD):c.31_32delinsATT (p.Gly11fs) rs1057516362
NM_000187.4(HGD):c.339_342+2del rs1057516662
NM_000187.4(HGD):c.342+1G>A rs397515518
NM_000187.4(HGD):c.346del (p.Leu116fs) rs1057516911
NM_000187.4(HGD):c.368G>A (p.Gly123Glu) rs374473331
NM_000187.4(HGD):c.376_377del (p.Lys126fs) rs1057516976
NM_000187.4(HGD):c.390del (p.Ala132fs) rs1057516352
NM_000187.4(HGD):c.3G>C (p.Met1Ile) rs1057516355
NM_000187.4(HGD):c.409del (p.Leu137fs) rs1057516921
NM_000187.4(HGD):c.413G>A (p.Cys138Tyr) rs1941316527
NM_000187.4(HGD):c.435-1G>C
NM_000187.4(HGD):c.482G>A (p.Gly161Glu)
NM_000187.4(HGD):c.566G>T (p.Ser189Ile) rs2107510544
NM_000187.4(HGD):c.58del (p.Arg20fs) rs1057516849
NM_000187.4(HGD):c.626_635del (p.Glu209fs)
NM_000187.4(HGD):c.649+2T>C rs1057516307
NM_000187.4(HGD):c.652del rs786204662
NM_000187.4(HGD):c.662T>A (p.Leu221Ter)
NM_000187.4(HGD):c.665C>A (p.Ala222Asp) rs1576294110
NM_000187.4(HGD):c.674G>C (p.Arg225Pro)
NM_000187.4(HGD):c.747C>A (p.Tyr249Ter)
NM_000187.4(HGD):c.748del (p.Gln250fs)
NM_000187.4(HGD):c.753C>T (p.Gly251=) rs1357020990
NM_000187.4(HGD):c.775-1G>A rs2107502859
NM_000187.4(HGD):c.781dup (p.Ser261fs) rs1057517418
NM_000187.4(HGD):c.820C>A (p.Pro274Thr)
NM_000187.4(HGD):c.824del (p.Tyr275fs)
NM_000187.4(HGD):c.832A>G (p.Asn278Asp)
NM_000187.4(HGD):c.87+1G>A
NM_000187.4(HGD):c.879+1G>A rs1553716979
NM_000187.4(HGD):c.880-2A>G
NM_000187.4(HGD):c.898G>C (p.Val300Leu)
NM_000187.4(HGD):c.899T>G (p.Val300Gly) rs120074170
NM_000187.4(HGD):c.956del (p.Pro319fs) rs1057517089
NM_000187.4(HGD):c.970dup (p.Val324fs) rs34214309

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