ClinVar Miner

List of variants in gene SCYL2 studied for congenital limb malformation

Included ClinVar conditions (336):
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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_017988.6(SCYL2):c.2167C>T (p.Leu723=) rs10860580 0.27673
NM_017988.6(SCYL2):c.177+35C>A rs7965910 0.23219
NM_017988.6(SCYL2):c.1096-23T>A rs7968030 0.22967
NM_017988.6(SCYL2):c.106C>T (p.Arg36Ter) rs760124743
NM_017988.6(SCYL2):c.1624dup (p.Val542fs) rs2096362304
NM_017988.6(SCYL2):c.176dup (p.Glu60fs) rs2135832798
NM_017988.6(SCYL2):c.214_234del (p.Asp72_Glu78del)
NM_017988.6(SCYL2):c.598dup (p.Cys200fs)
NM_017988.6(SCYL2):c.97del (p.Asp33fs) rs2135832560

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