ClinVar Miner

List of variants in gene GCDH reported as uncertain significance by Natera, Inc.

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.471C>T (p.Ser157=) rs146682905 0.00081
NM_000159.4(GCDH):c.952G>A (p.Asp318Asn) rs761135089 0.00017
NM_000159.4(GCDH):c.627C>T (p.Thr209=) rs143172809 0.00016
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn) rs200785120 0.00010
NM_000159.4(GCDH):c.946G>A (p.Ala316Thr) rs370059118 0.00008
NM_000159.4(GCDH):c.829C>T (p.Leu277Phe) rs371654188 0.00007
NM_000159.4(GCDH):c.1092C>T (p.Pro364=) rs146363703 0.00005
NM_000159.4(GCDH):c.1210G>A (p.Ala404Thr) rs201509112 0.00005
NM_000159.4(GCDH):c.893C>T (p.Ala298Val) rs764993096 0.00003
NM_000159.4(GCDH):c.727C>T (p.Arg243Trp) rs549254182 0.00002
NM_000159.4(GCDH):c.1082+8C>T rs199627852 0.00001
NM_000159.4(GCDH):c.242C>G (p.Pro81Arg) rs780408127 0.00001
NM_000159.4(GCDH):c.300G>A (p.Met100Ile) rs759838598 0.00001
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys) rs780976048 0.00001
NM_000159.4(GCDH):c.460G>A (p.Ala154Thr) rs759415410 0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu) rs1449724176 0.00001
NM_000159.4(GCDH):c.1124G>A (p.Cys375Tyr) rs1568429153
NM_000159.4(GCDH):c.397G>A (p.Val133Met) rs746388510
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln) rs121434373
NM_000159.4(GCDH):c.782C>T (p.Thr261Ile) rs777494547
NM_000159.4(GCDH):c.957-6A>C rs748270195

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