ClinVar Miner

List of variants reported as likely pathogenic for congenital limb malformation by Center of Genomic medicine, Geneva, University Hospital of Geneva

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln) rs749040743 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005445.4(SMC3):c.3563G>T (p.Gly1188Val) rs1590572104
NM_005445.4(SMC3):c.381C>G (p.Ser127Arg) rs748876063
NM_006306.4(SMC1A):c.124A>G (p.Met42Val) rs1556891104
NM_006306.4(SMC1A):c.3373A>G (p.Met1125Val) rs1057519499

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