ClinVar Miner

List of variants studied for autosomal recessive disease by Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_022168.4(IFIH1):c.1852C>T (p.Arg618Ter) rs745937740 0.00002
NM_002180.3(IGHMBP2):c.1061-2A>G rs1424522130 0.00001
NM_173551.5(ANKS6):c.1973-1G>A rs1458080834 0.00001
NM_000211.5(ITGB2):c.1657+1G>T rs2146499719
NM_001378454.1(ALMS1):c.8529_8530insA (p.Leu2844fs) rs2103892164
NM_004836.7(EIF2AK3):c.12del (p.Ile5fs) rs2103993244
NM_004836.7(EIF2AK3):c.641A>G (p.Tyr214Cys) rs1327996297
NM_173551.5(ANKS6):c.2420dup (p.Thr808fs) rs2131933650

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