ClinVar Miner

List of variants in gene GLDN studied for congenital limb malformation

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_181789.4(GLDN):c.1178G>A (p.Arg393Lys) rs147954907 0.00006
NM_181789.4(GLDN):c.95C>A (p.Ala32Glu) rs779432560 0.00006
NM_181789.4(GLDN):c.1428C>A (p.Phe476Leu) rs750803388 0.00003
NM_181789.4(GLDN):c.1093C>T (p.Leu365Phe) rs376573993 0.00001
NM_181789.4(GLDN):c.1240C>T (p.Arg414Ter) rs539703340 0.00001
NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter) rs775011495 0.00001
NM_181789.4(GLDN):c.82G>C (p.Ala28Pro) rs1016861963 0.00001
NM_181789.4(GLDN):c.1028-2A>T rs2038250738
NM_181789.4(GLDN):c.1347dup (p.Ala450fs)
NM_181789.4(GLDN):c.1423G>C (p.Ala475Pro) rs764239923
NM_181789.4(GLDN):c.1435C>T (p.Arg479Ter) rs368085516
NM_181789.4(GLDN):c.314G>A (p.Arg105His) rs764097726
NM_181789.4(GLDN):c.363+1G>A rs556661550
NM_181789.4(GLDN):c.385_392del (p.Cys129fs) rs2037658180
NM_181789.4(GLDN):c.541+1G>A rs886041057
NM_181789.4(GLDN):c.59T>C (p.Leu20Pro) rs1595795307
NM_181789.4(GLDN):c.758del (p.Pro253fs) rs886041056
NM_181789.4(GLDN):c.794G>A (p.Ser265Asn) rs17648128
NM_181789.4(GLDN):c.79T>C (p.Ser27Pro)
NM_181789.4(GLDN):c.817+1G>A
NM_181789.4(GLDN):c.86T>C (p.Leu29Pro) rs1595795343
NM_181789.4(GLDN):c.980_981del (p.Ser327fs) rs755420151

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