ClinVar Miner

List of variants studied for Chudley-McCullough syndrome by OMIM

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Total variants: 6
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GPSM2, 1-BP DEL, 1473G
NM_013296.5(GPSM2):c.1062+1G>T rs777695770
NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter) rs145191476
NM_013296.5(GPSM2):c.1684C>T (p.Gln562Ter) rs387907010
NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter) rs267606854
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912

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