List of variants in gene CCDC174 studied for congenital myopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_016474.5(CCDC174):c.308-55C>A	rs2276754	0.82289
NM_016474.5(CCDC174):c.725-13A>G	rs2280383	0.81143
NM_016474.5(CCDC174):c.1176G>A (p.Pro392=)	rs1901	0.39015
NM_016474.5(CCDC174):c.1044C>A (p.Val348=)	rs17040078	0.01348
NM_016474.5(CCDC174):c.472C>T (p.Pro158Ser)	rs145180886	0.00107
NM_016474.5(CCDC174):c.86T>C (p.Phe29Ser)	rs199752374	0.00020
NM_016474.5(CCDC174):c.1183G>C (p.Asp395His)	rs367970098	0.00003
NM_016474.5(CCDC174):c.1089G>T (p.Glu363Asp)
NM_016474.5(CCDC174):c.485+83C>G	rs9840626
NM_016474.5(CCDC174):c.521G>T (p.Arg174Leu)	rs138052160

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