ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive disease by Wangler Lab, Baylor College of Medicine

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.2663G>A (p.Arg888His) rs267608247 0.00004
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407 0.00001
NM_000287.4(PEX6):c.1220C>A (p.Thr407Asn) rs886043987
NM_000466.3(PEX1):c.1961_1962insCAGTGTGAA (p.Met654delinsIleSerValLys)
NM_000466.3(PEX1):c.484C>A (p.Pro162Thr)
NM_144672.4(OTOA):c.2352del (p.Thr785fs)

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