List of variants in gene GCDH reported as pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)	rs121434373	0.00026
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	rs121434369	0.00019
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)	rs141437721	0.00018
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)	rs121434372	0.00014
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys)	rs147611168	0.00014
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)	rs121434371	0.00011
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)	rs372983141	0.00006
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys)	rs121434370	0.00004
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)	rs1057516344	0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)	rs766518430	0.00003
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr)	rs761765983	0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)	rs779315456	0.00002
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter)	rs752127949	0.00001
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln)	rs200639270	0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)	rs139851890	0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)	rs777201305	0.00001
NM_000159.4(GCDH):c.636-1G>A	rs398123195	0.00001
NM_000159.4(GCDH):c.770G>A (p.Arg257Gln)	rs751583656	0.00001
NM_000159.4(GCDH):c.1156C>G (p.Arg386Gly)	rs752127949
NM_000159.4(GCDH):c.1173del (p.Asn392fs)	rs754002357
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)	rs142967670
NM_000159.4(GCDH):c.263G>A (p.Arg88His)	rs1970568682
NM_000159.4(GCDH):c.271+1G>A	rs786204639
NM_000159.4(GCDH):c.542A>G (p.Glu181Gly)	rs398123194
NM_000159.4(GCDH):c.706T>C (p.Phe236Leu)	rs747920711
NM_000159.4(GCDH):c.883T>C (p.Tyr295His)	rs121434366

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