ClinVar Miner

List of variants in gene GPSM2 reported as pathogenic for Chudley-McCullough syndrome

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP
GPSM2, 1-BP DEL, 1473G
NM_013296.4(GPSM2):c.1062+1G>T rs777695770
NM_013296.4(GPSM2):c.1063-1G>T rs773068151
NM_013296.4(GPSM2):c.1473delG (p.Phe492Serfs) rs772372530
NM_013296.4(GPSM2):c.1492C>T (p.Arg498Ter) rs370907055
NM_013296.4(GPSM2):c.1661C>A (p.Ser554Ter) rs145191476
NM_013296.4(GPSM2):c.1684C>T (p.Gln562Ter) rs387907010
NM_013296.4(GPSM2):c.379C>T (p.Arg127Ter) rs267606854
NM_013296.4(GPSM2):c.459_460delTG (p.Ala154Glnfs) rs727505300
NM_013296.4(GPSM2):c.742delC (p.Gly249Glufs) rs528069912

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