ClinVar Miner

List of variants studied for autosomal recessive osteopetrosis 1 by Myriad Genetics, Inc.

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_006019.4(TCIRG1):c.1158_1159del (p.Asn387fs)
NM_006019.4(TCIRG1):c.117+4A>C rs751881962
NM_006019.4(TCIRG1):c.1323_1324del (p.Phe441fs)
NM_006019.4(TCIRG1):c.1419del (p.Ser474fs)
NM_006019.4(TCIRG1):c.1567del (p.Ala523fs)
NM_006019.4(TCIRG1):c.1722del (p.Thr575fs)
NM_006019.4(TCIRG1):c.1812del (p.Ser605fs)
NM_006019.4(TCIRG1):c.1884del (p.Gln629fs)
NM_006019.4(TCIRG1):c.1978del (p.Arg660fs) rs2134462969
NM_006019.4(TCIRG1):c.723C>A (p.Cys241Ter)
NM_006019.4(TCIRG1):c.751_752insGTATGGGG (p.Glu251fs)
NM_006019.4(TCIRG1):c.766del (p.Ala256fs)

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