List of variants in gene CEP85L, PLN studied for Cardiomyopathy

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_002667.5(PLN):c.27C>T (p.Arg9=)	rs145623013	0.00051
NM_002667.5(PLN):c.145G>A (p.Val49Met)	rs749962743	0.00004
NM_002667.5(PLN):c.53T>C (p.Ile18Thr)	rs1029766634	0.00003
NM_002667.5(PLN):c.116T>G (p.Leu39Ter)	rs111033560	0.00002
NM_002667.5(PLN):c.34A>G (p.Ile12Val)	rs749571694	0.00002
NM_002667.5(PLN):c.36A>G (p.Ile12Met)	rs774556120	0.00002
NM_002667.5(PLN):c.148A>C (p.Met50Leu)	rs757797900	0.00001
NM_002667.5(PLN):c.149T>C (p.Met50Thr)	rs1779076744
NM_002667.5(PLN):c.25C>T (p.Arg9Cys)	rs111033559
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)	rs397516784
NM_002667.5(PLN):c.63_64dup (p.Gln22fs)	rs794729138

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