ClinVar Miner

List of variants studied for autosomal recessive disease by Elsea Laboratory, Baylor College of Medicine

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887 0.00683
NM_001127649.3(PEX26):c.911G>A (p.Arg304His) rs17851387 0.00121
NM_002618.4(PEX13):c.893T>C (p.Met298Thr) rs138545154 0.00110
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser) rs140963177 0.00046
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile) rs141510219 0.00016
NM_004813.4(PEX16):c.262G>A (p.Val88Met) rs567165324 0.00009
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys) rs541001298 0.00007
NM_001351132.2(PEX5):c.230G>A (p.Arg77His) rs780957318 0.00006
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_001351132.2(PEX5):c.1352G>A (p.Gly451Glu) rs148266027 0.00004
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000287.4(PEX6):c.611C>G (p.Ser204Ter) rs773056086 0.00001
NM_000414.4(HSD17B4):c.1210-11C>G rs779466683 0.00001
NM_000254.3(MTR):c.2405+1G>A rs1664669480
NM_000254.3(MTR):c.2473+3A>G rs1665277406
NM_000254.3(MTR):c.762C>T (p.Leu254=) rs1661602756
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu) rs749729761
NM_003630.3(PEX3):c.292_302del (p.Ser98fs) rs748689554

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