ClinVar Miner

List of variants reported as pathogenic for alopecia - intellectual disability syndrome by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001622.4(AHSG):c.950G>A (p.Arg317His) rs201849460 0.00004
NM_002340.6(LSS):c.1194+5G>A rs748758448 0.00003
NM_002340.6(LSS):c.1547A>G (p.Asn516Ser) rs148141905 0.00001
NM_002340.6(LSS):c.2114C>A (p.Thr705Lys) rs746562872
NM_002340.6(LSS):c.35G>A (p.Gly12Asp) rs763705074
NM_002340.6(LSS):c.423G>A (p.Trp141Ter) rs1569036540
NM_002340.6(LSS):c.625A>T (p.Asn209Tyr) rs754230211
NM_002340.6(LSS):c.779G>C (p.Arg260Pro) rs570157673

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