ClinVar Miner

List of variants reported as pathogenic for autosomal recessive osteopetrosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_006019.4(TCIRG1):c.2236+1G>A rs1475338876 0.00004
NM_000067.3(CA2):c.681del (p.Lys227fs) rs779869368
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter) rs1855655612
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter) rs748659068
NM_006019.4(TCIRG1):c.242del (p.Pro81fs) rs1208311085

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