ClinVar Miner

List of variants in gene SCGN reported as uncertain significance for not specified

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_006998.4(SCGN):c.502C>T (p.Arg168Trp) rs148850055 0.00005
NM_006998.4(SCGN):c.103A>G (p.Lys35Glu) rs144360959 0.00003
NM_006998.4(SCGN):c.709A>G (p.Ile237Val) rs1256231474 0.00003
NM_006998.4(SCGN):c.823A>G (p.Asn275Asp) rs756412728 0.00002
NM_006998.4(SCGN):c.191A>G (p.Gln64Arg) rs201621568 0.00001
NM_006998.4(SCGN):c.232A>T (p.Ile78Phe) rs1337491414 0.00001
NM_006998.4(SCGN):c.322G>A (p.Val108Met) rs182880487 0.00001
NM_006998.4(SCGN):c.344G>T (p.Arg115Leu) rs1480236886 0.00001
NM_006998.4(SCGN):c.8G>A (p.Ser3Asn) rs753936553 0.00001
NM_006998.4(SCGN):c.95T>C (p.Ile32Thr) rs770067229 0.00001
NM_006998.4(SCGN):c.169G>A (p.Ala57Thr)
NM_006998.4(SCGN):c.296G>A (p.Arg99His)
NM_006998.4(SCGN):c.404G>C (p.Arg135Pro)
NM_006998.4(SCGN):c.430G>A (p.Ala144Thr) rs138238239
NM_006998.4(SCGN):c.430G>C (p.Ala144Pro)
NM_006998.4(SCGN):c.437C>T (p.Ser146Phe) rs373103151
NM_006998.4(SCGN):c.457T>C (p.Tyr153His)
NM_006998.4(SCGN):c.497A>G (p.Asp166Gly)
NM_006998.4(SCGN):c.50T>G (p.Phe17Cys) rs1760151409
NM_006998.4(SCGN):c.514A>G (p.Asn172Asp) rs764885798
NM_006998.4(SCGN):c.67C>G (p.Arg23Gly)
NM_006998.4(SCGN):c.6C>A (p.Asp2Glu)
NM_006998.4(SCGN):c.70T>C (p.Phe24Leu)
NM_006998.4(SCGN):c.758G>A (p.Cys253Tyr) rs2480713646
NM_006998.4(SCGN):c.763G>T (p.Val255Leu) rs200081828
NM_006998.4(SCGN):c.88G>T (p.Gly30Cys)
NM_006998.4(SCGN):c.89G>A (p.Gly30Asp) rs371145510

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