ClinVar Miner

List of variants in gene combination AAMP, ABCB6, ANKZF1, ARPC2, ASIC4, ATG9A, BCS1L, CATIP, CDK5R2, CFAP65, CHPF, CNOT9, CNPPD1, CRYBA2, CTDSP1, CXCR1, CXCR2, CYP27A1, DES, DNAJB2, DNPEP, FEV, GLB1L, GMPPA, GPBAR1, IHH, MIR26B, MIR375, NHEJ1, OBSL1, PLCD4, PNKD, PRKAG3, PTPRN, RESP18, RETREG2, RNF25, SLC11A1, SLC23A3, SPEG, STK16, STK36, TMBIM1, TMEM198, TTLL4, TUBA4A, USP37, VIL1, WNT10A, WNT6, ZFAND2B, ZNF142 reported as uncertain significance for Alacrima, achalasia, and intellectual disability syndrome

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Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NC_000002.11:g.(?_218999525)_(220435954_?)dup

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