ClinVar Miner

List of variants studied for autosomal recessive osteopetrosis 1 by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006019.4(TCIRG1):c.1245G>C (p.Leu415=) rs2471829 0.97643
NM_006019.4(TCIRG1):c.417+11A>G rs3808974 0.32688
NM_006019.4(TCIRG1):c.1020+152G>T rs72926459 0.18098
NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) rs36027301 0.04199
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=) rs145718040 0.00029
NM_006019.4(TCIRG1):c.1894G>A (p.Val632Ile) rs760670339 0.00001
NM_006019.4(TCIRG1):c.384C>T (p.His128=) rs3808973

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