ClinVar Miner

List of variants studied for autosomal recessive disease by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

Included ClinVar conditions (1204):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) rs373118250 0.00005
NM_016356.5(DCDC2):c.349-2A>G rs760040426 0.00003
NM_000067.3(CA2):c.275A>C (p.Gln92Pro) rs1304160279
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000441.2(SLC26A4):c.164+1del rs786204504
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly) rs1789162289
NM_001267550.2(TTN):c.2073A>T (p.Gly691=) rs72647860
NM_001267550.2(TTN):c.31846+1G>A rs794727043
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs) rs1225532037
NM_002180.3(IGHMBP2):c.256+5G>C
NM_002618.4(PEX13):c.367G>T (p.Glu123Ter) rs2104803395
NM_006765.4(TUSC3):c.420dup (p.Gln141fs) rs773426468
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651
NM_022095.4(ZNF335):c.1471G>C (p.Asp491His)
NM_022095.4(ZNF335):c.1748C>T (p.Thr583Met)
NM_022168.4(IFIH1):c.1246A>C (p.Ile416Leu)
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_144772.3(NAXE):c.760C>T (p.Arg254Cys)

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