ClinVar Miner

List of variants in gene HPD reported as uncertain significance for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_002150.3(HPD):c.498G>A (p.Met166Ile) rs149081239 0.00141
NM_002150.3(HPD):c.1005C>G (p.Ile335Met) rs137852868 0.00051
NM_002150.3(HPD):c.895C>T (p.Leu299=) rs144544907 0.00041
NM_002150.3(HPD):c.954+14A>C rs200866898 0.00039
NM_002150.3(HPD):c.331C>T (p.Arg111Trp) rs117839625 0.00014
NM_002150.3(HPD):c.941T>C (p.Ile314Thr) rs376100037 0.00010
NM_002150.3(HPD):c.356G>A (p.Arg119Gln) rs149180825 0.00008
NM_002150.3(HPD):c.815A>G (p.Glu272Gly) rs375083142 0.00007
NM_002150.3(HPD):c.836G>A (p.Arg279His) rs140144597 0.00005
NM_002150.3(HPD):c.914C>T (p.Thr305Met) rs200010805 0.00005
NM_002150.3(HPD):c.544G>A (p.Asp182Asn) rs750446552 0.00004
NM_002150.3(HPD):c.5C>T (p.Thr2Met) rs774495352 0.00004
NM_002150.3(HPD):c.61T>C (p.Ser21Pro) rs776782918 0.00004
NM_002150.3(HPD):c.634G>A (p.Val212Met) rs780501941 0.00004
NM_002150.3(HPD):c.915G>A (p.Thr305=) rs751753975 0.00004
NM_002150.3(HPD):c.1108G>A (p.Ala370Thr) rs142321451 0.00003
NM_002150.3(HPD):c.157G>A (p.Gly53Ser) rs758064577 0.00002
NM_002150.3(HPD):c.778G>A (p.Gly260Arg) rs755816788 0.00002
NM_002150.3(HPD):c.93+9C>T rs542121054 0.00002
NM_002150.3(HPD):c.1106A>G (p.Lys369Arg) rs777094600 0.00001
NM_002150.3(HPD):c.1159A>G (p.Asn387Asp) rs754985728 0.00001
NM_002150.3(HPD):c.574G>A (p.Glu192Lys) rs1877675977 0.00001
NM_002150.3(HPD):c.580G>T (p.Val194Leu) rs570445297 0.00001
NM_002150.3(HPD):c.765T>C (p.Tyr255=) rs767720774 0.00001
NM_002150.3(HPD):c.954+5G>A rs1252680307 0.00001
NC_000012.11:g.(?_122281596)_(122281758_?)del
NC_000012.12:g.(?_121839708)_(121840068_?)del
NM_002150.3(HPD):c.1016C>G (p.Pro339Arg) rs1877352949
NM_002150.3(HPD):c.104T>C (p.Phe35Ser) rs1592923946
NM_002150.3(HPD):c.1061A>G (p.His354Arg) rs1877351328
NM_002150.3(HPD):c.106T>C (p.Tyr36His)
NM_002150.3(HPD):c.1092C>A (p.Phe364Leu)
NM_002150.3(HPD):c.1097C>A (p.Ser366Ter) rs369037617
NM_002150.3(HPD):c.109T>C (p.Cys37Arg) rs1246785384
NM_002150.3(HPD):c.1120G>A (p.Glu374Lys) rs1020099831
NM_002150.3(HPD):c.1121A>T (p.Glu374Val) rs1877344435
NM_002150.3(HPD):c.1133G>C (p.Arg378Pro) rs560715209
NM_002150.3(HPD):c.1151del (p.Met384fs) rs1555339247
NM_002150.3(HPD):c.1165G>C (p.Val389Leu) rs1404803313
NM_002150.3(HPD):c.325-2A>G
NM_002150.3(HPD):c.356_358del (p.Arg119_Glu120delinsGln) rs1877932887
NM_002150.3(HPD):c.413C>T (p.Thr138Met)
NM_002150.3(HPD):c.415-5C>G
NM_002150.3(HPD):c.415T>A (p.Tyr139Asn) rs1877705055
NM_002150.3(HPD):c.44G>C (p.Arg15Pro)
NM_002150.3(HPD):c.460G>C (p.Gly154Arg)
NM_002150.3(HPD):c.485C>T (p.Ala162Val) rs1566570874
NM_002150.3(HPD):c.518+3G>A rs1877698848
NM_002150.3(HPD):c.543C>T (p.Ile181=) rs756242095
NM_002150.3(HPD):c.561C>G (p.Asn187Lys) rs1438994844
NM_002150.3(HPD):c.688G>A (p.Ala230Thr) rs2137616170
NM_002150.3(HPD):c.802G>A (p.Ala268Thr)
NM_002150.3(HPD):c.835C>G (p.Arg279Gly)
NM_002150.3(HPD):c.85G>A (p.Ala29Thr)
NM_002150.3(HPD):c.898C>T (p.Arg300Trp) rs149281612
NM_002150.3(HPD):c.899G>A (p.Arg300Gln)
NM_002150.3(HPD):c.92A>G (p.Gln31Arg) rs1878057534
NM_002150.3(HPD):c.93+3A>G

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