List of variants in gene combination CLCC1, GPSM2 reported as uncertain significance 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001377458.1(CLCC1):c.*2256G>A	rs188296554	0.00235
NM_001377458.1(CLCC1):c.*2139A>C	rs568302826	0.00218
NM_013296.5(GPSM2):c.2043G>A (p.Ser681=)	rs140949805	0.00176
NM_001377458.1(CLCC1):c.*2600A>G	rs193138520	0.00113
NM_001377458.1(CLCC1):c.*2399T>C	rs542144752	0.00071
NM_001377458.1(CLCC1):c.*2140C>A	rs548199963	0.00008
NM_013296.5(GPSM2):c.2040A>G (p.Lys680=)	rs142663817	0.00008
NM_013296.5(GPSM2):c.1909C>T (p.Arg637Trp)	rs189033496	0.00006
NM_001377458.1(CLCC1):c.*2285A>G	rs886045027	0.00004
NM_013296.5(GPSM2):c.1910G>A (p.Arg637Gln)	rs765367400	0.00003
NM_001377458.1(CLCC1):c.*2133A>G	rs1017420538
NM_001377458.1(CLCC1):c.*2856T>C	rs1651564377
NM_013296.5(GPSM2):c.1941_1942del (p.Arg647fs)

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