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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_013296.5(GPSM2):c.1062+1G>T	rs777695770	0.00006
NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter)	rs145191476	0.00006
NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter)	rs267606854	0.00006
NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter)	rs370907055	0.00004
NM_013296.5(GPSM2):c.832C>T (p.Arg278Ter)	rs762285081	0.00001
NM_013296.5(GPSM2):c.1473del (p.Phe492fs)	rs772372530
NM_013296.5(GPSM2):c.1501del (p.Ser501fs)	rs761092578
NM_013296.5(GPSM2):c.1546_1553del (p.Cys516fs)	rs1553216524
NM_013296.5(GPSM2):c.1684C>T (p.Gln562Ter)	rs387907010
NM_013296.5(GPSM2):c.742del (p.Gly249fs)	rs528069912
NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter)	rs1060499797

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