ClinVar Miner

List of variants studied for autosomal recessive disease by Department of Molecular and Human Genetics, Baylor College of Medicine

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_005548.3(KARS1):c.1045G>A (p.Asp349Asn) rs397514746 0.00006
NM_005548.3(KARS1):c.433T>C (p.Tyr145His) rs397514745 0.00003
NM_021628.3(ALOXE3):c.418C>T (p.Arg140Ter) rs370031870 0.00001
GRCh37/hg19 13q12.11(chr13:20803674-21030220)
GRCh37/hg19 17q22(chr17:57119174-57128690)
GRCh37/hg19 1q42.13(chr1:227149087-227149264)
GRCh37/hg19 6p12.3-12.2(chr6:51695623-52371918)
GRCh37/hg19 8p23.1(chr8:6261036-6312712)
GRCh37/hg19 8p23.2-23.1(chr8:6160874-6500521)
GRCh37/hg19 8q24.3(chr8:140852548-140953922)
NC_000017.11:g.8017296_8022594del
NM_001199107.2(TBC1D24):c.208G>T (p.Asp70Tyr) rs587777147
NM_001199107.2(TBC1D24):c.878G>C (p.Arg293Pro) rs199700840
NM_004230.4(S1PR2):c.323G>C (p.Arg108Pro) rs869312749
NM_006012.4(CLPP):c.433A>C (p.Thr145Pro) rs398123033
NM_006012.4(CLPP):c.440G>C (p.Cys147Ser) rs398123034
NM_021116.4(ADCY1):c.3112C>T (p.Arg1038Ter) rs587777497
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148

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