ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive disease by Department of Human Genetics, Hannover Medical School

Included ClinVar conditions (1204):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 2q31.2(chr2:178655529-178662529)x1
NM_000243.3(MEFV):c.1652A>G (p.Gln551Arg)
NM_000466.3(PEX1):c.346T>C (p.Trp116Arg)
NM_000492.4(CFTR):c.2851A>G (p.Lys951Glu)
NM_001145026.2(PTPRQ):c.4534_4536dup (p.Phe1512_Gln1513insPhe)
NM_001199799.2(ILDR1):c.779-6A>G
NM_001256317.3(TMPRSS3):c.620G>A (p.Cys207Tyr)
NM_003619.4(PRSS12):c.359A>C (p.Glu120Ala)
NM_005422.4(TECTA):c.1779C>T (p.Ser593=)
NM_005422.4(TECTA):c.2101G>A (p.Gly701Ser)
NM_005422.4(TECTA):c.36T>G (p.Ser12=) rs2135046516
NM_006618.5(KDM5B):c.469A>T (p.Thr157Ser)
NM_006736.6(DNAJB2):c.99C>G (p.Asp33Glu)
NM_007118.4(TRIO):c.652G>A (p.Val218Ile)
NM_182961.4(SYNE1):c.2477C>T (p.Ser826Phe)

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