ClinVar Miner

List of variants in gene GLS studied for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_014905.5(GLS):c.1270T>C (p.Cys424Arg)
NM_014905.5(GLS):c.1460dup (p.Ile488fs) rs2124915767
NM_014905.5(GLS):c.241C>T (p.Gln81Ter) rs1559310284
NM_014905.5(GLS):c.695dup (p.Asp232fs) rs1558971345
NM_014905.5(GLS):c.704A>G (p.Tyr235Cys) rs112403775
NM_014905.5(GLS):c.7C>T (p.Arg3Trp)
NM_014905.5(GLS):c.815G>A (p.Arg272Lys) rs1558972120

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